Orphanet : Diseases

F12-associated cold autoinflammatory syndrome

Clinical practice guidelines
Français (2022) Déficits immunitaires héréditaires - PNDS

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

F12-related hereditary angioedema with normal C1Inh

Article for general public
Svenska (2022) - Socialstyrelsen

Emergency guidelines
Français (2021.pdf) Angidème bradykinique - Orphanet Urgences

Polski (2009.pdf) Obrzek naczynioruchowy niehistaminowy - Orphanet Urgences

Deutsch (2009.pdf) Nicht-histaminvermitteltes Angioödem - Orphanet Urgences

English (2009.pdf) Non histamine-induced angioedema - Orphanet Urgences

Español (2017.pdf) Angioedema mediado por bradicinina - Orphanet Urgences

Italiano (2009.pdf) Angioedema non istaminico - Orphanet Urgences

Português (2009.pdf) Angioderma nao induzido pela histamina - Orphanet Urgences
Clinical practice guidelines
Français (2024) Angioedème héréditaire : diagnostic et prise en charge chez l'adulte et chez l'enfant - PNDS

Français (2021) Angidèmes Héréditaires : diagnostic et prise en charge de ladulte et de lenfant - PNDS

English (2010) 2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema - Allergy Asthma Clin Immunol
Diagnostic Keys
Français (2024) Angioedème isolé - Les clés du diagnostic

Disability factsheet
Français (2018.pdf) - Orphanet

Guidance for genetic testing
English (2019) - Eur J Hum Genet

Fabry disease

Article for general public
Français (2014) - SNFMI

Español (2018) Guía de la enfermedad de Anderson-Fabry - GuíaSalud

Svenska (2022) - Socialstyrelsen

Emergency guidelines
Français (2011.pdf) Maladie de Fabry - Orphanet Urgences

Italiano (2011.pdf) Malattia di Fabry - Orphanet Urgences
Anesthesia guidelines
Deutsch (2019) - Orphananesthesia

English (2019) - Orphananesthesia

Čeština (2019) - Orphananesthesia
Clinical practice guidelines
Français (2021) Maladie de Fabry - PNDS

Deutsch (2022) - AWMF

English (2013) Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice - Nephrol Dial Transplant

English (2015) Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document - Orphanet J Rare Dis

English (2017) Screening, diagnosis, and management of patients with Fabry disease: conclusions from a ''Kidney Disease: Improving Global Outcomes'' (KDIGO) Controversies Conference - Kidney Int

Español (2018) Guía Multidisciplinar española sobre la enfermedad de Anderson-Fabry - GuíaSalud

Magyar (2010) Fabry-betegség - Orv Hetil

Review article
English (2010) - Orphanet J Rare Dis
Clinical genetics review
English (2023) Fabry Disease - GeneReviews

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Guidance for genetic testing
Français (2016.pdf) - ANPGM

English (2011) - Eur J Hum Genet

Facial diplegia with paresthesias

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Article for general public
English (2016.pdf) 10p Proximal Deletions From 10p11 And 10p12 - Unique

Русский (2019) 10p Proximal Deletions From 10p11 And 10p12 - Unique

Clinical genetics review
English (2017) - GeneReviews

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Clinical genetics review
English (2017) - GeneReviews

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

Clinical practice guidelines
Français (2022) Déficits immunitaires héréditaires - PNDS

English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Anesthesia guidelines
English (2019) - Orphananesthesia

Čeština (2019) - Orphananesthesia

Facioscapulohumeral dystrophy

Article for general public
Français (2011.pdf) - Orphanet

Deutsch (2017.pdf) - ACHSE

Español (2015.pdf) - Orphanet

Svenska (2019) - Socialstyrelsen

Clinical practice guidelines
Français (2021) Dystrophie musculaire Facio-Scapulo-Humérale - PNDS

Deutsch (2021) - AWMF

English (2015) Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology

Review article
English (2019) Management strategies in facioscapulohumeral muscular dystrophy - Intractable Rare Dis Res
Clinical genetics review
English (2020) Facioscapulohumeral Muscular Dystrophy - GeneReviews

Disability factsheet
Français (2013.pdf) - Orphanet

Español (2016.pdf) - Orphanet

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Factor V Amsterdam bleeding disorder

Clinical practice guidelines
Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS

Factor V Atlanta bleeding disorder

Clinical practice guidelines
Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS

Factor V short isoforms-related bleeding disorder

Clinical practice guidelines
Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS

FADD-related immunodeficiency

Clinical practice guidelines
Français (2022) Déficits immunitaires héréditaires - PNDS

Familial acute necrotizing encephalopathy

Clinical genetics review
English (2014) - GeneReviews

Familial adenomatous polyposis

Article for general public
Français (2011) - INCa

Deutsch (2018.pdf) - Familienhilfe Polyposis Coli e.V

Clinical practice guidelines
Deutsch (2017) - AWMF

English (2019) Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Endoscopy

English (2012) Management of colorectal carcinoma in children and young adults - J Pediatr Hematol Oncol

Review article
English (2009) - Orphanet J Rare Dis
Clinical genetics review
English (2022) - GeneReviews

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Guidance for genetic testing
English (2011) - Eur J Hum Genet

Familial adenomatous polyposis due to 5q22.2 microdeletion

Article for general public
Deutsch (2018.pdf) - Familienhilfe Polyposis Coli e.V

Clinical practice guidelines
English (2019) Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Endoscopy

English (2012) Management of colorectal carcinoma in children and young adults - J Pediatr Hematol Oncol

Clinical genetics review
English (2022) APC-Associated Polyposis Conditions - GeneReviews

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Guidance for genetic testing
English (2011) - Eur J Hum Genet

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

Clinical practice guidelines
English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Familial adult myoclonic epilepsy

Article for general public
Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE

Familial afibrinogenemia

Clinical practice guidelines
Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS

Familial Alzheimer-like prion disease

Clinical genetics review
English (2021) - GeneReviews

Familial aortic dissection

Clinical practice guidelines
English (2023) HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN - Eur J Med Genet

English (2024) Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) - Eur Heart J

Familial apolipoprotein C-II deficiency

Clinical practice guidelines
Deutsch (2015) - AWMF

Clinical genetics review
English (2017) Familial Lipoprotein Lipase Deficiency - GeneReviews

Familial articular hypermobility syndrome

Anesthesia guidelines
Deutsch (2019) - Orphananesthesia

English (2019) - Orphananesthesia

Español (2019) - Orphananesthesia

Čeština (2019) - Orphananesthesia

Familial atrial fibrillation

Clinical practice guidelines
Français (2014) - ALD

Deutsch (2018) - AWMF

English (2013) Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement - Europace

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Familial atypical multiple mole melanoma syndrome

Review article
English (2009) - PDQ Cancer Inf Sum

Familial avascular necrosis of femoral head

Clinical genetics review
English (2020) TRPV4-Associated Disorders - GeneReviews

Familial bicuspid aortic valve

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

English (2023) HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN - Eur J Med Genet

English (2024) Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) - Eur Heart J

Familial calcium pyrophosphate deposition

Diagnostic Keys
Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic

Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic

Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic

Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic

Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic

Familial cerebral cavernous malformation

Article for general public
Français (2008.pdf) - Orphanet

Svenska (2024) - Socialstyrelsen

Clinical practice guidelines
Deutsch (2023) - AWMF

Review article
English (2012) Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management - Eur J Hum Genet
Clinical genetics review
English (2023) Familial Cerebral Cavernous Malformations - GeneReviews

Familial Chilblain lupus

Clinical practice guidelines
Français (2024) Interféronopathies - PNDS

Deutsch (2020) - AWMF

Familial chylomicronemia syndrome

Clinical practice guidelines
Deutsch (2015) - AWMF

Clinical genetics review
English (2017) - GeneReviews

Familial cold urticaria

Article for general public
Svenska (2011) - Socialstyrelsen

Emergency guidelines
Français (2025.pdf) Syndrome périodique associé à la cryopyrine (CAPS) - Orphanet Urgences
Clinical practice guidelines
Français (2013) Syndromes périodiques associés à la cryopyrine (CAPS) - PNDS

Français (2022) Déficits immunitaires héréditaires - PNDS

Deutsch (2022) - AWMF

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Familial colorectal cancer Type X

Clinical practice guidelines
English (2020) Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG) - Gut

Familial congenital mirror movements

Clinical genetics review
English (2020) Congenital Mirror Movements - GeneReviews

Familial digital arthropathy-brachydactyly

Article for general public
Svenska (2022) - Socialstyrelsen

Clinical genetics review
English (2020) - GeneReviews

Familial dilated cardiomyopathy

Clinical practice guidelines
English (2016) Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases - Eur Heart J

Clinical genetics review
English (2022) - GeneReviews

Guidance for genetic testing
Deutsch (2018) - DGK

English (2012) - Eur J Hum Genet

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

Clinical practice guidelines
Français (2022) Laminopathies avec présentation cardiaque - PNDS

Clinical genetics review
English (2022) LMNA-Related Dilated Cardiomyopathy - GeneReviews

English (2022) Dilated Cardiomyopathy Overview - GeneReviews

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Familial dysautonomia

Anesthesia guidelines
English (2015) - Orphananesthesia

Čeština (2015) - Orphananesthesia
Clinical practice guidelines
Deutsch (2021) - AWMF

Review article
English (2007) - Orphanet J Rare Dis
Clinical genetics review
English (2021) Familial Dysautonomia - GeneReviews

Familial dysfibrinogenemia

Clinical practice guidelines
Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS

Familial dyskinesia and facial myokymia

Clinical genetics review
English (2020) ADCY5 Dyskinesia - GeneReviews

Familial encephalopathy with neuroserpin inclusion bodies

Article for general public
Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE

Emergency guidelines
Français (2013.pdf) Epilepsies myocloniques progressives (EMP) - Orphanet Urgences

Familial exudative vitreoretinopathy

Article for general public
Español (2017) - GuíaSalud

Clinical practice guidelines
Español (2017.pdf) - Ministerio de Sanidad

Clinical genetics review
English (2011) - GeneReviews

English (2023) NDP-Related Retinopathies - GeneReviews

Familial focal epilepsy with variable foci

Article for general public
Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE

Clinical genetics review
English (2023) DEPDC5-Related Epilepsy - GeneReviews

Familial gestational hyperthyroidism

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Familial glucocorticoid deficiency

Clinical practice guidelines
English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med

Familial hemophagocytic lymphohistiocytosis

Clinical practice guidelines
Français (2022) Déficits immunitaires héréditaires - PNDS

Review article
Deutsch (2020) - Onkopedia
Clinical genetics review
English (2021) - GeneReviews

Familial hyperaldosteronism

Clinical practice guidelines
Français (2016) - SFE

English (2024) Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline - Eur J Endocrinol

English (2016) The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab

Familial hyperaldosteronism type I

Clinical practice guidelines
Français (2016) - SFE

English (2024) Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline - Eur J Endocrinol

English (2016) The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab

Familial hyperaldosteronism type II

Clinical practice guidelines
Français (2016) - SFE

English (2020) Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol

English (2024) Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline - Eur J Endocrinol

English (2016) The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab

Familial hyperaldosteronism type III

Clinical practice guidelines
Français (2016) - SFE

English (2024) Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline - Eur J Endocrinol

English (2016) The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab

Familial hyperaldosteronism type IV

Clinical practice guidelines
English (2024) Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline - Eur J Endocrinol

Familial Hyperalphalipoproteinemia

Clinical practice guidelines
Deutsch (2015) - AWMF

Familial hyperinflammatory lymphoproliferative immunodeficiency

Clinical practice guidelines
Français (2022) Déficits immunitaires héréditaires - PNDS

English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol

Familial hyperinsulinism

Clinical genetics review
English (2019) - GeneReviews

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

Clinical genetics review
English (2018) - GeneReviews

Guidance for genetic testing
English (2018.pdf) - Eur J Hum Genet

Familial hyperprolactinemia

Clinical practice guidelines
English (2011) Diagnosis and treatment of hyperprolactinemia: an Endocrine Society clinical practice guideline - J Clin Endocrinol Metab

Familial hyperthyroidism due to mutations in TSH receptor

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Familial hypocalciuric hypercalcemia

Clinical practice guidelines
Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS

Français (2021) Lithiase urinaire de lenfant - PNDS

English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J

Guidance for genetic testing
Français (2015.pdf) - ANPGM

Diagnostic Keys
Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic

Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic

Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic

Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic

Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic

Familial hypocalciuric hypercalcemia type 1

Clinical practice guidelines
Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS

Diagnostic Keys
Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic

Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic

Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic

Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic

Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic

Familial hypocalciuric hypercalcemia type 2

Clinical practice guidelines
Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS

Diagnostic Keys
Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic

Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic

Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic

Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic

Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic

Familial hypocalciuric hypercalcemia type 3

Clinical practice guidelines
Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS

Diagnostic Keys
Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic

Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic

Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic

Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic

Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic

Familial hypodysfibrinogenemia

Clinical practice guidelines
Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS

Guidance for genetic testing
Français (2018.pdf) - ANPGM

Familial hypofibrinogenemia

Clinical practice guidelines
Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS

Guidance for genetic testing
Français (2018.pdf) - ANPGM

Familial idiopathic dilatation of the right atrium

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Familial infantile myoclonic epilepsy

Article for general public
Español (2022) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE

Clinical genetics review
English (2017) TBC1D24-Related Disorders - GeneReviews

Familial intrahepatic cholestasis

Guidance for genetic testing
Français (2015.pdf) - ANPGM

Familial isolated congenital asplenia

Clinical practice guidelines
Français (2022) Déficits immunitaires héréditaires - PNDS

English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol

Familial isolated dilated cardiomyopathy

Review article
English (2006) - Orphanet J Rare Dis
Clinical genetics review
English (2022) - GeneReviews

English (2022) LMNA-Related Dilated Cardiomyopathy - GeneReviews

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Familial isolated hyperparathyroidism

Clinical practice guidelines
Deutsch (2016) - AWMF

Clinical genetics review
English (2023) CDC73-Related Disorders - GeneReviews

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Familial isolated hypoparathyroidism

Article for general public
Svenska (2019) - Socialstyrelsen

Emergency guidelines
Français (2016.pdf) Hypoparathyroïdie isolée familiale - Orphanet Urgences

Español (2017.pdf) Hipoparatiroidismo aislado familiar - Orphanet Urgences
Clinical practice guidelines
Français (2017) Hypoparathyroïdie - PNDS

English (2019) Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus - Eur J Endocrinol

English (2015) European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults - Eur J Endocrinol

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

Article for general public
Svenska (2019) - Socialstyrelsen

Clinical practice guidelines
Français (2017) Hypoparathyroïdie - PNDS

English (2019) Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus - Eur J Endocrinol

English (2015) European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults - Eur J Endocrinol

Familial isolated hypoparathyroidism due to impaired PTH secretion

Article for general public
Svenska (2019) - Socialstyrelsen

Clinical practice guidelines
Français (2017) Hypoparathyroïdie - PNDS

English (2019) Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus - Eur J Endocrinol

English (2015) European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults - Eur J Endocrinol

Familial isolated pituitary adenoma

Clinical practice guidelines
English (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol

Clinical genetics review
English (2020) AIP Familial Isolated Pituitary Adenomas - GeneReviews

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Familial isolated restrictive cardiomyopathy

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Familial isolated retinal arteriolar tortuosity

Clinical genetics review
English (2016) - GeneReviews

Familial LCAT deficiency

Clinical practice guidelines
English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica

Familial lipoprotein lipase deficiency

Clinical practice guidelines
Deutsch (2015) - AWMF

Clinical genetics review
English (2017) - GeneReviews

Familial Mediterranean fever

Article for general public
Norsk (2016) - PRINTO/PRES

Français (2009.pdf) - Fondation Groupama

עברית (2016) - PRINTO/PRES

Polski (2016) - PRINTO/PRES

Latviešu (2016) - PRINTO/PRES

Deutsch (2016) - PRINTO/PRES

Українська (2016) - PRINTO/PRES

Ελληνικά (2016) - PRINTO/PRES

English (2016) - PRINTO/PRES

Español (2016) - PRINTO/PRES

Nederlands (2016) - PRINTO/PRES

Türkçe (2016) - PRINTO/PRES

ไทย (2016) - PRINTO/PRES

বাংলা (2016) - PRINTO/PRES

Svenska (2008) - Socialstyrelsen

Slovenščina (2016) - PRINTO/PRES

Slovenčina (2016) - PRINTO/PRES

Dansk (2016) - PRINTO/PRES

Српски (2016) - PRINTO/PRES

Čeština (2016) - PRINTO/PRES

Русский (2016) - PRINTO/PRES

Hrvatski (2016) - PRINTO/PRES

中文 (2016) - PRINTO/PRES

Română (2016) - PRINTO/PRES

Magyar (2016) - PRINTO/PRES

Italiano (2016) - PRINTO/PRES

العربية (2016) - PRINTO/PRES

Emergency guidelines
Français (2017.pdf) Fièvre méditerranéenne familiale - Orphanet Urgences

Deutsch (2014.pdf) Familiäres Mittelmeerfieber - Orphanet Urgences

English (2010.pdf) Familial Mediterranean fever - Orphanet Urgences

Español (2017.pdf) Fiebre mediterránea familiar - Orphanet Urgences

Italiano (2012.pdf) Febbre mediterranea familiare - Orphanet Urgences

Português (2010.pdf) Febre mediterrânica familiar - Orphanet Urgences
Clinical practice guidelines
Français (2022) Déficits immunitaires héréditaires - PNDS

Français (2022) Fièvre Méditerranéenne Familiale (FMF) - PNDS

English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol

Español (2020.pdf) - Asoc Española de Pediatría
Diagnostic Keys
Français (2022) Arthrite - Les clés du diagnostic

Français (2022) Fièvre trop fréquente chez l'enfant - Les clés du diagnostic

Clinical genetics review
English (2016) - GeneReviews

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Guidance for genetic testing
English (2014) - Eur J Hum Genet

Familial medullary thyroid carcinoma

Article for general public
Français (2013) - INCa

Svenska (2013) - Socialstyrelsen

Clinical practice guidelines
Français (2009.pdf) - INCa

English (2012) Management of Thyroid Carcinoma in Children and Young Adults - J Pediatr Hematol Oncol

Review article
English (2006) - Orphanet J Rare Dis
Clinical genetics review
English (2023) Multiple Endocrine Neoplasia Type 2 - GeneReviews

Guidance for genetic testing
English (2011) - Eur J Hum Genet

Familial melanoma

Article for general public
Français (2010) - INCa

Clinical practice guidelines
Français (2013) - INCa

Clinical genetics review
English (2022) POT1 Tumor Predisposition - GeneReviews

Familial mesial temporal lobe epilepsy

Article for general public
Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE

Familial mitral valve prolapse

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Familial monosomy 7 syndrome

Clinical practice guidelines
English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood

English (2017) Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel - Blood

English (2013) Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet - Blood

Clinical genetics review
English (2021) Monosomy 7 Predisposition Syndromes Overview - GeneReviews

Familial nonmedullary thyroid carcinoma

Article for general public
Français (2013) - INCa

Familial or sporadic hemiplegic migraine

Emergency guidelines
Français (2010.pdf) Migraine hèmiplégique - Orphanet Urgences

Deutsch (2010.pdf) Hemiplegische Migräne - Orphanet Urgences

English (2010.pdf) Hemiplegic Migraine (HM) - Orphanet Urgences

Español (2010.pdf) Migraña hemipléjica (MH) - Orphanet Urgences

Italiano (2010.pdf) Emicrania emiplegica - Orphanet Urgences

Português (2010.pdf) Enxaqueca Hemiplégica (HM) - Orphanet Urgences

Review article
Français (2008.pdf) - Rev Neurol
Clinical genetics review
English (2018) PRRT2-Associated Paroxysmal Movement Disorders - GeneReviews

English (2021) - GeneReviews

Familial osteochondritis dissecans

Review article
English (2016) 'The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases' - Orphanet J Rare Dis

Familial pancreatic carcinoma

Article for general public
Français (2012) - INCa

Deutsch (2010) - Onkopedia

Clinical practice guidelines
Français (2010) - ALD

English (2020) Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium - Gut

Review article
Deutsch (2018) - Onkopedia

English (2017) - PDQ Cancer Inf Sum

Familial papillary or follicular thyroid carcinoma

Article for general public
Français (2013) - INCa

Familial papillary thyroid carcinoma with renal papillary neoplasia

Clinical practice guidelines
Français (2010) - ALD

Familial paroxysmal ataxia

Article for general public
Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND

Polski (2021.pdf) Ataxia: What's that? - ERN-RND

Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND

English (2021.pdf) Ataxia: What's that? - ERN-RND

Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND

Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND

Čeština (2021.pdf) Ataxia: What's that? - ERN-RND

Magyar (2021.pdf) Ataxia: mi az? - ERN-RND

Italiano (2021.pdf) Atassia: cos'è? - ERN-RND

Português (2021.pdf) Ataxia: O que é isso? - ERN-RND

Clinical practice guidelines
Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND

Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND

Deutsch (2023) - AWMF

English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND

Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND

Clinical genetics review
English (2015) - GeneReviews

Familial partial epilepsy

Article for general public
Español (2022) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE

Familial partial lipodystrophy

Clinical practice guidelines
English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab

Guidance for genetic testing
English (2016) - Eur J Hum Genet

Familial partial lipodystrophy, Dunnigan type

Clinical practice guidelines
Français (2021) Syndrome lipodystrophique de Dunnigan - PNDS

English (2022) ''Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)'' - Orphanet J Rare Dis

Familial partial lipodystrophy, Köbberling type

Clinical practice guidelines
English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab

Familial patent arterial duct

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Familial platelet disorder with associated myeloid malignancy

Clinical practice guidelines
Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS

Deutsch (2024) - AWMF

Clinical genetics review
English (2018) ANKRD26-Related Thrombocytopenia - GeneReviews

English (2021) RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies - GeneReviews

English (2020) ETV6 Thrombocytopenia and Predisposition to Leukemia - GeneReviews

Guidance for genetic testing
Français (2017.pdf) - ANPGM

English (2016) - Eur J Hum Genet

Familial porencephaly

Clinical genetics review
English (2016) - GeneReviews

Familial porphyria cutanea tarda

Clinical genetics review
English (2022) - GeneReviews

Familial primary hyperparathyroidism

Clinical practice guidelines
Deutsch (2016) - AWMF

Review article
English (2015) Primary Hyperparathyroidism: Epidemiology, Clinical Features, Diagnostic Tools and Current Management - Italian J Med

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Familial progressive cardiac conduction defect

Clinical practice guidelines
English (2013) Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement - Europace

Guidance for genetic testing
Français (2017.pdf) - ANPGM

Familial prostate cancer

Review article
English (2019) - Onkopedia

Familial pseudohyperkalemia

Clinical practice guidelines
English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica

Familial restrictive cardiomyopathy

Guidance for genetic testing
Deutsch (2018) - DGK

Familial retinal arterial macroaneurysm

Article for general public
Deutsch (2013.pdf) - ÄZQ

Familial schizencephaly

Clinical genetics review
English (2016) COL4A1-Related Disorders - GeneReviews

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

Clinical practice guidelines
English (2020) IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome - Pediatr Nephrol

English (2014) Canadian Society of Nephrology Commentary on the 2012 KDIGO clinical practice guideline for glomerulonephritis: management of nephrotic syndrome in children - Am J Kidney Dis

English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med

English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int

Clinical genetics review
English (2020) Sphingosine Phosphate Lyase Insufficiency Syndrome - GeneReviews

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Clinical practice guidelines
English (2020) IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome - Pediatr Nephrol

English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol

English (2014) Canadian Society of Nephrology Commentary on the 2012 KDIGO clinical practice guideline for glomerulonephritis: management of nephrotic syndrome in children - Am J Kidney Dis

English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int

Clinical genetics review
English (2023) Primary Coenzyme Q10 Deficiency Overview - GeneReviews

Familial syringomyelia

Clinical practice guidelines
Français (2024) Syringomyélie - PNDS

Français (2016) Syringomyelie - Les fentes intramédullaires - PNDS

Français (2016) Syringomyelie - Les fentes intramédullaires - PNDS

English (2016.pdf) Syringomyelia - Intramedullary clefts - PNDS

Guidance for genetic testing
English (2019.pdf) - Eur J Hum Genet

Familial temporal lobe epilepsy

Article for general public
Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE

Familial thoracic aortic aneurysm and aortic dissection

Article for general public
Suomi (2014.pdf) - FPD RD Unit

Français (2019.pdf) - Fondation Groupama

Emergency guidelines
Français (2017.pdf) Syndrome de Marfan et syndromes apparentés - Orphanet Urgences

Polski (2007.pdf) Zespol Marfana - Orphanet Urgences

Deutsch (2014.pdf) Marfan-Syndrom - Orphanet Urgences

English (2007.pdf) Marfan Syndrome - Orphanet Urgences

Español (2007.pdf) Síndrome de Marfan - Orphanet Urgences

Italiano (2007.pdf) Marfan (Sindrome di Marfan) - Orphanet Urgences

Português (2007.pdf) Síndrome Marfan - Orphanet Urgences
Anesthesia guidelines
English (2013) - Orphananesthesia

Español (2013) - Orphananesthesia

Čeština (2013) - Orphananesthesia
Clinical practice guidelines
English (2024) Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) - Eur Heart J

English (2019) European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants - Orphanet J Rare Dis

English (2023) HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN - Eur J Med Genet

Clinical genetics review
English (2023) Heritable Thoracic Aortic Disease Overview - GeneReviews

Guidance for genetic testing
English (2015) - Eur J Hum Genet

Familial thrombocytosis

Guidance for genetic testing
English (2013) - Eur J Hum Genet

Familial thyroid dyshormonogenesis

Anesthesia guidelines
English (2017) - Orphananesthesia

Español (2017) - Orphananesthesia

Čeština (2017) - Orphananesthesia

Review article
English (2010) - Orphanet J Rare Dis

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Familial vesicoureteral reflux

Clinical practice guidelines
Français (2024) Transplantation rénale chez lenfant - PNDS

Français (2018) Maladie Rénale Chronique de l'enfant - PNDS

English (2010) Summary of the AUA Guideline on Management of Primary Vesicoureteral Reflux in Children - J Urol

Familial visceral myopathy

Clinical genetics review
English (2021) - GeneReviews

Fanconi anemia

Article for general public
Svenska (2016) - Socialstyrelsen

Emergency guidelines
Français (2015.pdf) Anémie de Fanconi - Orphanet Urgences

Español (2018.pdf) Anemia de Fanconi - Orphanet Urgences
Clinical practice guidelines
Français (2024) Aplasies médullaires acquises et constitutionnelles - PNDS

English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol

Review article
Español (2018.pdf) - Fanconi Anemia Fundation
Clinical genetics review
English (2021) - GeneReviews

Disability factsheet
Français (2016.pdf) - Orphanet

Español (2017.pdf) - Orphanet

Farber disease

Clinical genetics review
English (2018) - GeneReviews

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Emergency guidelines
Français (2018.pdf) Cardiomyopathie hypertrophique - Orphanet Urgences

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Fatal familial insomnia

Clinical genetics review
English (2021) Genetic Prion Disease - GeneReviews

Fatal infantile cytochrome C oxidase deficiency

Clinical practice guidelines
Deutsch (2021) - AWMF

Fatal infantile hypertonic myofibrillar myopathy

Article for general public
Svenska (2023) Myofibrillära myopatier - Socialstyrelsen

Fatal infantile lactic acidosis with methylmalonic aciduria

Clinical practice guidelines
Deutsch (2021) - AWMF

Clinical genetics review
English (2017) SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria - GeneReviews

Fatty acid hydroxylase-associated neurodegeneration

Article for general public
Deutsch (2017.pdf) - ACHSE

Clinical practice guidelines
Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS

Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS

Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS

Deutsch (2022) - AWMF

Clinical genetics review
English (2019) Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews

English (2018) - GeneReviews

Disability factsheet
Français (2018.pdf) - Orphanet

Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy

Emergency guidelines
Français (2018.pdf) Cardiomyopathie hypertrophique - Orphanet Urgences

Febrile infection-related epilepsy syndrome

Article for general public
Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE

Feingold syndrome

Clinical practice guidelines
Deutsch (2019) - AWMF

Feingold syndrome type 1

Clinical genetics review
English (2019) Feingold Syndrome 1 - GeneReviews

Felty syndrome

Clinical practice guidelines
Français (2024) Neutropénies chroniques - PNDS

Female restricted epilepsy with intellectual disability

Article for general public
Español (2020.pdf) Epilepsia PCDH19 - Unique

Italiano (2020.pdf) Epilessia correlata a PCDH19 - Unique

Fetal akinesia deformation sequence

Article for general public
Deutsch (2020.pdf) - Kindernetzwerk e.V.

Anesthesia guidelines
English (2014) - Orphananesthesia

Čeština (2014) - Orphananesthesia

Fetal alcohol syndrome

Clinical practice guidelines
Deutsch (2024) - AWMF

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Fetal and neonatal alloimmune thrombocytopenia

Review article
English (2006) - Orphanet J Rare Dis

Fetal cytomegalovirus syndrome

Clinical practice guidelines
Deutsch (2024) - AWMF

Fetal Gaucher disease

Article for general public
Français (2010.pdf) - Orphanet

Clinical practice guidelines
Français (2022) Maladie de Gaucher - PNDS

Clinical genetics review
English (2013.pdf) - Eur J Hum Genet

English (2023) Gaucher Disease - GeneReviews

Fetal iodine syndrome

Anesthesia guidelines
English (2017) - Orphananesthesia

Español (2017) - Orphananesthesia

Čeština (2017) - Orphananesthesia

Review article
English (2010) - Orphanet J Rare Dis

Fetal lower urinary tract obstruction

Clinical practice guidelines
Français (2024) Transplantation rénale chez lenfant - PNDS

Français (2018) Maladie Rénale Chronique de l'enfant - PNDS

English (2022) Definition, diagnosis and management of fetal lower urinary tract obstruction: consensus of the ERKNet CAKUT-Obstructive Uropathy Work Group - Nat Rev Urol

Fetal parvovirus syndrome

Clinical practice guidelines
Deutsch (2024) - AWMF

Fetal valproate spectrum disorder

Clinical practice guidelines
Français (2017) Embryo-Foetopathie au Valproate - PNDS

Français (2017) Embryo-Foetopathie au Valproate - PNDS

English (2019) 'Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability' - Orphanet J Rare Dis

Fever-associated acute infantile liver failure syndrome

Clinical practice guidelines
English (2017) EASL Clinical Practical Guidelines on the management of acute (fulminant) liver failure - J Hepatol

FG syndrome type 1

Article for general public
Deutsch (2019.pdf) - Kindernetzwerk e.V.

English (2016.pdf) MED12 Related Disorders - Unique

Clinical genetics review
English (2021) - GeneReviews

FGFR2-related bent bone dysplasia

Clinical genetics review
English (2020) FGFR Craniosynostosis Syndromes Overview - GeneReviews

Fibrodysplasia ossificans progressiva

Article for general public
Svenska (2018) - Socialstyrelsen

Emergency guidelines
Français (2018.pdf) Fibrodysplasie ossifiante progressive (FOP) - Orphanet Urgences
Anesthesia guidelines
English (2014) - Orphananesthesia

Español (2018) - Orphananesthesia

Čeština (2014) - Orphananesthesia
Clinical practice guidelines
Français (2024) Fibrodysplasie ossifiante progressive - PNDS

Review article
English (2011) - Orphanet J Rare Dis
Clinical genetics review
English (2023) Fibrodysplasia Ossificans Progressiva - GeneReviews

Guidance for genetic testing
English (2015) - Eur J Hum Genet

Fibronectin glomerulopathy

Clinical practice guidelines
Français (2024) Transplantation rénale chez lenfant - PNDS

Français (2018) Maladie Rénale Chronique de l'enfant - PNDS

Fibrosarcoma

Article for general public
English (2017) - PDQ Cancer Inf Sum

Clinical practice guidelines
Deutsch (2021) - AWMF

English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol

English (2018) Bone sarcomas: ESMO-PaedCan-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol

English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol

English (2021) Bone sarcomas: ESMO-EURACAN-GENTURIS-ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up - Ann Oncol

Fibrosis-neurodegeneration-cerebral angiomatosis syndrome

Clinical practice guidelines
Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS

English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J

Fibrous dysplasia of bone

Article for general public
Français (2009.pdf) - Orphanet

Emergency guidelines
Français (2015.pdf) Dysplasie fibreuse des os - Orphanet Urgences

Español (2017.pdf) Displasia ósea fibrosa - Orphanet Urgences
Clinical practice guidelines
Français (2022) Dysplasie et syndrome de McCune-Albright - PNDS

Review article
English (2012) - Orphanet J Rare Dis

Fibrous dysplasia/McCune-Albright syndrome

Clinical practice guidelines
Français (2022) Dysplasie et syndrome de McCune-Albright - PNDS

Français (2022) Dysplasie et syndrome de McCune-Albright - PNDS

Fixed drug eruption

Clinical practice guidelines
Deutsch (2023) - AWMF

Fixed subaortic stenosis

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Deutsch (2017) - AWMF

FKRP-related limb-girdle muscular dystrophy R9

Article for general public
Svenska (2018) - Socialstyrelsen

Anesthesia guidelines
English (2015) - Orphananesthesia

Español (2015) - Orphananesthesia

Čeština (2015) - Orphananesthesia
Clinical practice guidelines
Français (2022) Myopathies reliées au collagène VI - PNDS

English (2014) Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology

Clinical genetics review
English (2012) - GeneReviews

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Fleck corneal dystrophy

Review article
English (2009) - Orphanet J Rare Dis

FLNA-related X-linked myxomatous valvular dysplasia

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Floating-Harbor syndrome

Article for general public
English (2016.pdf) Floating-Harbor Syndrome Spanish - Unique

Español (2020.pdf) Floating-Harbor Syndrome Spanish - Unique

Español (2020.pdf) Floating-Harbor Syndrome Spanish - Unique

Svenska (2019) - Socialstyrelsen

ქართული (2020.pdf) Floating-Harbor Syndrome Spanish - Unique

Clinical genetics review
English (2019) - GeneReviews

Focal dermal hypoplasia

Article for general public
Svenska (2015) - Socialstyrelsen

Clinical practice guidelines
Français (2024) Colobomes oculaires - PNDS

Clinical genetics review
English (2023) PORCN-Related Developmental Disorders - GeneReviews

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Clinical genetics review
English (2017) TBC1D24-Related Disorders - GeneReviews

Focal myositis

Article for general public
Français (2014) - SNFMI

Anesthesia guidelines
English (2016) - Orphananesthesia

Español (2016) - Orphananesthesia

Čeština (2016) - Orphananesthesia

Focal stiff limb syndrome

Article for general public
Svenska (2015) - Socialstyrelsen

Anesthesia guidelines
Deutsch (2014) - Orphananesthesia

English (2014) - Orphananesthesia

Español (2014) - Orphananesthesia

Čeština (2014) - Orphananesthesia
Clinical practice guidelines
Deutsch (2017) - AWMF

Focal, segmental or multifocal dystonia

Article for general public
Français (2006.pdf) - Orphanet

Clinical practice guidelines
Deutsch (2021) - AWMF

English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol

Clinical genetics review
English (2017) - GeneReviews

Foix-Chavany-Marie syndrome

Article for general public
Deutsch (2019.pdf) - Kindernetzwerk e.V.

Svenska (2015) - Socialstyrelsen

Follicular dendritic cell sarcoma

Clinical practice guidelines
Deutsch (2021) - AWMF

English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol

English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol

Follicular lymphoma

Article for general public
Deutsch (2010) - Onkopedia

Clinical practice guidelines
English (2020) The investigation and management of follicular lymphoma - Br J Haematol

Review article
English (2022) - Onkopedia

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Folliculotropic mycosis fungoides

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

FOXG1 syndrome

Emergency guidelines
Français (2020.pdf) Syndrome de Rett - Orphanet Urgences

Español (2020.pdf) Síndrome de Rett - Orphanet Urgences
Clinical practice guidelines
Français (2018) Syndromes FOXG1 et « FOXG1 plus » - PNDS

Clinical genetics review
English (2024) FOXG1 Syndrome - GeneReviews

FOXG1 syndrome due to 14q12 microdeletion

Article for general public
English (2016.pdf) 14q12 Deletions - Unique

Русский (2016.pdf) 14q12 Deletions - Unique

Clinical genetics review
English (2024) FOXG1 Syndrome - GeneReviews

Disability factsheet
Français (2018.pdf) - Orphanet

FOXG1 syndrome due to intragenic alteration

Clinical genetics review
English (2024) FOXG1 Syndrome - GeneReviews

FOXP1 Syndrome

Clinical genetics review
English (2023) FOXP1 Syndrome - GeneReviews

Fragile X syndrome

Article for general public
Français (2012.pdf) - Orphanet

Deutsch (2017.pdf) - ÄZQ

Emergency guidelines
Français (2021.pdf) Syndrome de lX fragile - Orphanet Urgences

Español (2023.pdf) Síndrome X frágil - Orphanet Urgences
Anesthesia guidelines
English (2015) - Orphananesthesia

Español (2015) - Orphananesthesia

Čeština (2015) - Orphananesthesia
Clinical practice guidelines
Français (2021) Syndrome de lX Fragile - PNDS

Clinical genetics review
English (2008.pdf) - Eur J Hum Genet

English (2019) - GeneReviews

Disability factsheet
Français (2013.pdf) - Orphanet

Español (2018.pdf) - Orphanet

Guidance for genetic testing
Français (2018.pdf) - ANPGM

English (2011) - Eur J Hum Genet

Fragile X-associated primary ovarian insufficiency

Article for general public
Svenska (2024) - Socialstyrelsen

Fragile X-associated tremor/ataxia syndrome

Article for general public
Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND

Polski (2021.pdf) Ataxia: What's that? - ERN-RND

Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND

English (2021.pdf) Ataxia: What's that? - ERN-RND

Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND

Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND

Svenska (2024) - Socialstyrelsen

Svenska (2022) - Socialstyrelsen

Čeština (2021.pdf) Ataxia: What's that? - ERN-RND

Magyar (2021.pdf) Ataxia: mi az? - ERN-RND

Italiano (2021.pdf) Atassia: cos'è? - ERN-RND

Português (2021.pdf) Ataxia: O que é isso? - ERN-RND

Clinical practice guidelines
Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND

Français (2021) Syndrome de lX Fragile - PNDS

Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND

Deutsch (2023) - AWMF

English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND

Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND

Review article
English (2013) Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome - Lancet Neurol
Clinical genetics review
English (2019) - GeneReviews

Guidance for genetic testing
Français (2018.pdf) - ANPGM

English (2011) - Eur J Hum Genet

Fraser syndrome

Article for general public
Français (2015.pdf) - Orphanet

Deutsch (2019.pdf) - Kindernetzwerk e.V.

Español (2017.pdf) - Orphanet

Anesthesia guidelines
English (2014) - Orphananesthesia

Čeština (2014) - Orphananesthesia
Clinical practice guidelines
Français (2020) Syndrome de Fraser - PNDS

Diagnostic criteria
English (2007) Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria - Am J Med Genet

Disability factsheet
Français (2015.pdf) - Orphanet

Español (2016.pdf) - Orphanet

Frasier syndrome

Clinical practice guidelines
English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int

FRAXE intellectual disability

Clinical practice guidelines
Français (2021) Syndrome de lX Fragile - PNDS

Free sialic acid storage disease

Article for general public
Svenska (2018) - Socialstyrelsen

Review article
English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
Clinical genetics review
English (2020) - GeneReviews

Free sialic acid storage disease, infantile form

Article for general public
Svenska (2018) - Socialstyrelsen

Review article
English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
Clinical genetics review
English (2020) - GeneReviews

Freeman-Sheldon syndrome

Article for general public
Deutsch (2019.pdf) - Kindernetzwerk e.V.

Anesthesia guidelines
English (2018) - Orphananesthesia

Čeština (2018) - Orphananesthesia

Review article
English (2019) - Orphanet J Rare Dis

Friedreich ataxia

Article for general public
Français (2017.pdf) - Association Française de l'Ataxie de Friedreich

Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND

Polski (2021.pdf) Ataxia: What's that? - ERN-RND

Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND

English (2021.pdf) Ataxia: What's that? - ERN-RND

Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND

Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND

Svenska (2021) - Socialstyrelsen

Čeština (2021.pdf) Ataxia: What's that? - ERN-RND

Magyar (2021.pdf) Ataxia: mi az? - ERN-RND

Italiano (2021.pdf) Atassia: cos'è? - ERN-RND

Português (2021.pdf) Ataxia: O que é isso? - ERN-RND

Emergency guidelines
Français (2018.pdf) Cardiomyopathie hypertrophique - Orphanet Urgences
Anesthesia guidelines
English (2016) - Orphananesthesia

Čeština (2016) - Orphananesthesia
Clinical practice guidelines
Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND

Français (2022.pdf) Lignes directrices de consensus pour la prise en charge clinique de l'ataxie de Friedreich - ERN-RND

Français (2021) Ataxie de Friedreich - PNDS

Polski (2022.pdf) Consensus Clinical Management Guidelines for Friedreichs ataxia - ERN-RND

Deutsch (2022.pdf) Konsens-Leitlinien für das klinische Management von Friedreich-Ataxien - ERN-RND

Deutsch (2014.pdf) - ERN-RND

Deutsch (2023) - AWMF

English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND

English (2022.pdf) Consensus Clinical Management Guidelines for Friedreichs ataxia - ERN-RND

Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND

Español (2022.pdf) Directrices de consenso para la gestión clínica de las ataxias de Friedreich - ERN-RND

Español (2014.pdf) - ERN-RND

Nederlands (2022.pdf) Consensusrichtlijnen voor klinisch beheer van Ataxie van Friedreich - ERN-RND

Български (2022.pdf) Consensus Clinical Management Guidelines for Friedreichs ataxia - ERN-RND

Čeština (2022.pdf) Consensus Clinical Management Guidelines for Friedreichs ataxia - ERN-RND

Magyar (2022.pdf) Konszenzusos klinikai kezelési irányelvek a Friedreich-taxisra vonatkozóan - ERN-RND

Italiano (2022.pdf) Linee guida di consenso per la gestione clinica delle atassie di Friedreich - ERN-RND

Clinical genetics review
English (2017) - GeneReviews

Disability factsheet
Français (2017.pdf) - Orphanet

Español (2020.pdf) - Orphanet

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Frontofacionasal dysplasia

Clinical practice guidelines
Français (2024) Colobomes oculaires - PNDS

Frontometaphyseal dysplasia

Clinical genetics review
English (2019) - GeneReviews

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

Clinical practice guidelines
Français (2024) Colobomes oculaires - PNDS

Frontorhiny

Clinical practice guidelines
Français (2024) Colobomes oculaires - PNDS

Frontotemporal dementia

Article for general public
Français (2007.pdf) - Orphanet

Clinical genetics review
English (2022) MAPT-Related Frontotemporal Dementia - GeneReviews

English (2020) CHMP2B Frontotemporal Dementia - GeneReviews

Frontotemporal dementia with motor neuron disease

Clinical genetics review
English (2021) CHCHD10-Related Disorders - GeneReviews

English (2023) Amyotrophic Lateral Sclerosis Overview - GeneReviews

English (2023) TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia - GeneReviews

Guidance for genetic testing
Français (2018.pdf) - ANPGM

Fructose-1,6-bisphosphatase deficiency

Emergency guidelines
Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M

Français (2022) Hypoglycémie récidivante chez patient non connu - G2M

Français (2022) Déficit en fructose-1,6-diphosphatase (F16BP) - G2M

English (2022.pdf) Hypoglycaemia in A&E (no diagnosis known) - G2M

English (2022.pdf) Fructose 1,6-bisphosphatase deficiency - G2M

English (2022.pdf) Recurrent undiagnosed hypoglycaemia - G2M

English (2012.pdf) - Brit Inher Metab Dis Group

Clinical genetics review
English (2019) Fructose-1,6-Bisphosphatase Deficiency - GeneReviews

Fryns syndrome

Emergency guidelines
Français (2020.pdf) Hernie de coupole diaphragmatique - Orphanet Urgences

Clinical genetics review
English (2020) - GeneReviews

Fuchs endothelial corneal dystrophy

Review article
English (2009) - Orphanet J Rare Dis

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Fuchs heterochromic iridocyclitis

Clinical practice guidelines
Deutsch (2023) - AWMF

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Diagnostic Keys
Français (2023) Uvéite - Les clés du diagnostic

Fucosidosis

Anesthesia guidelines
Deutsch (2019) - Orphananesthesia

English (2019) - Orphananesthesia

Čeština (2019) - Orphananesthesia
Clinical practice guidelines
Deutsch (2022) - AWMF