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Kabuki syndrome
- Article for general public
  Español (2019.pdf) - Spanish hospitals
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
  
  Italiano (2015) - Orphananesthesia
- Clinical practice guidelines
  English (2011.pdf) Management of Kabuki Syndrome - A Clinical Guideline - Dyscerne
- Clinical genetics review
  English (2022) Kabuki Syndrome - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Kagami-Ogata syndrome
- Clinical genetics review
  English (2024) Kagami-Ogata Syndrome - GeneReviews
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Article for general public
  Français (2004.pdf) Disomie uniparentale 14 - Unique
  
  English (2020.pdf) Uniparental Disomy 14 - Unique
  
  ქართული (2020.pdf) Uniparental Disomy 14 - Unique
- Review article
  Español (2015.pdf) - CIBERER
Kallmann syndrome
- Article for general public
  Svenska (2017) - Socialstyrelsen
- Clinical practice guidelines
  English (2015) Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment - Nat Rev Endocrinol
- Review article
  Français (2009.pdf) - Ann Endocrinol
- Clinical genetics review
  English (2008.pdf) - Eur J Hum Genet
  
  English (2022) - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Kallmann syndrome-heart disease syndrome
- Review article
  Français (2009.pdf) - Ann Endocrinol
Kaposi sarcoma
- 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) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  English (2013) Kaposi's sarcoma: etiology and pathogenesis, inducing factors, causal associations, and treatments: facts and controversies - Clin Dermatol
Kaposiform hemangioendothelioma
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Review article
  English (2020) - Orphanet J Rare Dis
Kaposiform lymphangiomatosis
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Review article
  English (2017) - PDQ Cancer Inf Sum
Kapur-Toriello syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Kasabach-Merritt phenomenon
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Review article
  English (2017) - PDQ Cancer Inf Sum
KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Article for general public
  English (2017.pdf) KAT6A Syndrome - Unique
  
  ქართული (2017.pdf) KAT6A syndrome - Unique
  
  Русский (2020.pdf) KAT6A syndrome - Unique
Kawasaki disease
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2016) - PRINTO/PRES
  
  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
  
  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
  
  Português (2016) - PRINTO/PRES
- Emergency guidelines
  Français (2021.pdf) Maladie de Kawasaki - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Maladie de Kawasaki - PNDS
  
  Deutsch (2020) - AWMF
  
  Deutsch (2024) - AWMF
  
  English (2022) 2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Kawasaki Disease - Arthritis Care Res
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Review article
  English (2014) Management of Kawasaki disease - Arch Dis Child
- Diagnostic criteria
  English (2004) Diagnosis, treatment, and long-term management of Kawasaki disease: a statement for health professionals from the Committee on Rheumatic Fever, Endocarditis and Kawasaki Disease, Council on Cardiovascular Disease in the Young, American Heart Association - Circulation
KBG syndrome
- Article for general public
  English (2019.pdf) ANKRD11 And KBG Syndrome - Unique
  
  Nederlands (2015.pdf) ANKRD11 En KBG Syndroom - Unique
  
  Nederlands (2015.pdf) ANKRD11 En KBG Syndroom - Unique
  
  ქართული (2019.pdf) ANKRD11 En KBG Syndroom - Unique
  
  한국어 (2019.pdf) ANKRD11 And KBG Syndrome - Unique
  
  한국어 (2019.pdf) ANKRD11 And KBG Syndrome - Unique
  
  Русский (2019.pdf) ANKRD11 And KBG Syndrome - Unique
  
  Русский (2019.pdf) ANKRD11 And KBG Syndrome - Unique
- Clinical practice guidelines
  Français (2020) Syndrome KBG - PNDS
- Review article
  English (2017) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) - GeneReviews
KCNQ2-related developmental and epileptic encephalopathy
- Clinical genetics review
  English (2022) - GeneReviews
Kearns-Sayre syndrome
- Article for general public
  Français (2014.pdf) - Orphanet
  
  Español (2016) - GuíaSalud
  
  Svenska (2016) - Socialstyrelsen
- Anesthesia guidelines
  English (2011) - Orphananesthesia
  
  Čeština (2011) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
  
  English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol
  
  Español (2017.pdf) - Ministerio de Sanidad
- Clinical genetics review
  English (2023) Mitochondrial DNA Deletion Syndromes - GeneReviews
  
  English (2021) RRM2B Mitochondrial DNA Maintenance Defects - GeneReviews
- Disability factsheet
  Français (2014.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Kennedy disease
- Article for general public
  Français (2010.pdf) - Orphanet
  
  Español (2015.pdf) - Orphanet
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  Français (2020) - Orphananesthesia
  
  English (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Amyotrophie bulbo-spinale liée à lX ou maladie de Kennedy - PNDS
  
  English (2020) The French national protocol for Kennedys disease (SBMA): consensus diagnostic and management recommendations - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) Spinal and Bulbar Muscular Atrophy - GeneReviews
- Disability factsheet
  Français (2017.pdf) - Orphanet
Keppen-Lubinsky syndrome
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
Keratinopathic ichthyosis
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Keratitis fugax hereditaria
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Keratoderma hereditarium mutilans with ichthyosis
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Keutel syndrome
- Article for general public
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
KID syndrome
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Kikuchi-Fujimoto disease
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Review article
  English (2006) - Orphanet J Rare Dis
Kindler epidermolysis bullosa
- Article for general public
  Français (2012.pdf) - Orphanet
- Emergency guidelines
  Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2015) Épidermolyses bulleuses héréditaires - PNDS
  
  English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
  
  English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
  
  English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
  
  English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
  
  English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
  
  English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
  
  English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
  
  English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
  
  English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
  
  English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
  
  English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
  
  English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
  
  Español (2017.pdf) - Wounds International
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
King-Denborough syndrome
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Kleefstra syndrome
- Article for general public
  English (2009.pdf) Kleefstra Syndrome - Unique
  
  English (2016.pdf) Kleefstra Syndrome And Mental Health - Unique
  
  Русский (2009.pdf) Kleefstra Syndrome - Unique
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome de Kleefstra - PNDS
- Clinical genetics review
  English (2023) Kleefstra Syndrome - GeneReviews
Kleefstra syndrome due to 9q34 microdeletion
- Article for general public
  English (2009.pdf) Kleefstra Syndrome - Unique
  
  English (2016.pdf) Kleefstra Syndrome And Mental Health - Unique
  
  Español (2009.pdf) Sindrome De Kleefstra Spanish - Unique
  
  Nederlands (2009.pdf) Kleefstra Syndroom - Unique
  
  Русский (2009.pdf) Kleefstra Syndrome - Unique
  
  Русский (2009.pdf) Kleefstra Syndrome And Mental Health - Unique
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome de Kleefstra - PNDS
- Clinical genetics review
  English (2023) Kleefstra Syndrome - GeneReviews
Kleefstra syndrome due to a point mutation
- Article for general public
  English (2009.pdf) Kleefstra Syndrome - Unique
  
  English (2016.pdf) Kleefstra Syndrome And Mental Health - Unique
  
  Русский (2009.pdf) Kleefstra Syndrome - Unique
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome de Kleefstra - PNDS
- Clinical genetics review
  English (2023) Kleefstra Syndrome - GeneReviews
Kleine-Levin syndrome
- Clinical practice guidelines
  Français (2021) Syndrome Kleine-Levin - PNDS
- Review article
  Français (2008.pdf) - Rev Neurol
- Disability factsheet
  Français (2019.pdf) - Orphanet
Klippel-Trénaunay syndrome
- Article for general public
  Svenska (2023) - Socialstyrelsen
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Syndromes hypertrophiques liés au gène PIK3CA (PROS) sans atteinte cérébrale - Les syndromes CLOVES et de Klippel-Trenaunay - PNDS
  
  Français (2020) Syndromes hypertrophiques liés au gène PIK3CA (PROS) sans atteinte cérébrale - Les syndromes CLOVES et de Klippel-Trenaunay - PNDS
  
  Français (2020) Syndromes hypertrophiques liés au gène PIK3CA (PROS) sans atteinte cérébrale - Les syndromes CLOVES et de Klippel-Trenaunay - PNDS
Klüver-Bucy syndrome
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Kniest dysplasia
- Clinical genetics review
  English (2019) - GeneReviews
Kommerell diverticulum
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Koolen-De Vries syndrome
- Article for general public
  Français (2019.pdf) Syndrome De Koolen-de Vries - Unique
  
  Deutsch (2018.pdf) Koolen-De Vries Syndrome German - Unique
  
  English (2020.pdf) Koolen-De Vries Syndrome - Unique
  
  English (2016.pdf) Koolen-de Vries Syndrome Study Weekend Report - Unique
  
  Nederlands (2013.pdf) Koolen-De Vries Syndroom - Unique
  
  Русский (2013.pdf) Koolen-De-Vries Syndrome - Unique
- Clinical practice guidelines
  Français (2023) Syndrome de Koolen de Vries - PNDS
- Clinical genetics review
  English (2023) Koolen-de Vries Syndrome - GeneReviews
Koolen-De Vries syndrome due to a point mutation
- Clinical practice guidelines
  Français (2023) Syndrome de Koolen de Vries - PNDS
Kostmann syndrome
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2009.pdf) Neutropénie constitutionnelle sévère - Orphanet Urgences
  
  Deutsch (2009.pdf) Schwere konstitutionelle Neutropenie - Orphanet Urgences
  
  Español (2009.pdf) Neutropenia constitucional grave - Orphanet Urgences
  
  Italiano (2012.pdf) Neutropenia costituzionale grave - Orphanet Urgences
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
Krabbe disease
- Article for general public
  Deutsch (2015.pdf) - ACHSE
  
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  English (2011) Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals - Genet Med
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2018) - GeneReviews
Kufor-Rakeb syndrome
- 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
- Clinical genetics review
  English (2019) Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- Disability factsheet
  Français (2018.pdf) - Orphanet
Kyphoscoliotic Ehlers-Danlos syndrome
- Clinical practice guidelines
  Français (2020) Syndrome dEhlers-Danlos Non Vasculaire (SED NV) - PNDS
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
  
  English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
  
  English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
- Review article
  Français (2023) Le syndrome dEhlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Syndrome dEhlers-Danlos Non Vasculaire (SED NV) - PNDS
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
  
  English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
  
  English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
- Review article
  Français (2023) Le syndrome dEhlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
- Clinical genetics review
  English (2019) FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome - GeneReviews
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Syndrome dEhlers-Danlos Non Vasculaire (SED NV) - PNDS
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
  
  English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
  
  English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
- Review article
  Français (2023) Le syndrome dEhlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
- Clinical genetics review
  English (2018) PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
- Article for general public
  Svenska (2023) Myofibrillära myopatier - Socialstyrelsen