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- Rare otorhinolaryngologic disease ORPHA:98036
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome ORPHA:504476
- Familial nasal acilia ORPHA:922
- Cogan syndrome ORPHA:1467
- Rare deafness ORPHA:68361
- Syndromic genetic deafness ORPHA:90642
- Duane retraction syndrome with congenital deafness ORPHA:529574
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476
- Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
- Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome ORPHA:521445
- 1p35.2 microdeletion syndrome ORPHA:456298
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- H syndrome ORPHA:168569
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome ORPHA:171848
- MEDNIK syndrome ORPHA:171851
- EAST syndrome ORPHA:199343
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ORPHA:228012
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Dysmorphism-conductive hearing loss-heart defect syndrome ORPHA:289553
- Hypertelorism-preauricular sinus-punctual pits-deafness syndrome ORPHA:293958
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency ORPHA:300284
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome ORPHA:300333
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404
- Chudley-McCullough syndrome ORPHA:314597
- Sinoatrial node dysfunction and deafness ORPHA:324321
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336
- Hypotrichosis-deafness syndrome ORPHA:330029
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ORPHA:330054
- MEGDEL syndrome ORPHA:352328
- High myopia-sensorineural deafness syndrome ORPHA:363396
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome ORPHA:363649
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ORPHA:369939
- Congenital disorder of glycosylation with deafness as a major feature ORPHA:371212
- CHIME syndrome ORPHA:3474
- RFT1-CDG ORPHA:244310
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ORPHA:397744
- Autosomal recessive distal renal tubular acidosis ORPHA:402041
- Wolfram-like syndrome ORPHA:411590
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome ORPHA:440354
- Hyperostosis cranialis interna ORPHA:443098
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome ORPHA:445062
- Progressive autosomal recessive ataxia-deafness syndrome ORPHA:448251
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- CHARGE syndrome ORPHA:138
- 22q11.2 deletion syndrome ORPHA:567
- Wolf-Hirschhorn syndrome ORPHA:280
- Full NF2-related schwannomatosis ORPHA:637
- Norrie disease ORPHA:649
- Townes-Brocks syndrome ORPHA:857
- BOR syndrome ORPHA:107
- Treacher-Collins syndrome ORPHA:861
- Albinism-deafness syndrome ORPHA:998
- Ermine phenotype ORPHA:999
- Ocular albinism with late-onset sensorineural deafness ORPHA:1000
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome ORPHA:3085
- KID syndrome ORPHA:477
- Pendred syndrome ORPHA:705
- Alport syndrome ORPHA:63
- X-linked Alport syndrome ORPHA:88917
- Autosomal dominant Alport syndrome ORPHA:88918
- Autosomal recessive Alport syndrome ORPHA:88919
- X-linked Alport syndrome-diffuse leiomyomatosis ORPHA:1018
- Digenic Alport syndrome ORPHA:653722
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Usher syndrome ORPHA:886
- Usher syndrome type 3 ORPHA:231183
- Usher syndrome type 1 ORPHA:231169
- Usher syndrome type 2 ORPHA:231178
- Waardenburg syndrome ORPHA:3440
- Waardenburg syndrome type 1 ORPHA:894
- Waardenburg syndrome type 2 ORPHA:895
- Waardenburg syndrome type 3 ORPHA:896
- Wolfram syndrome ORPHA:3463
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Waardenburg-Shah syndrome ORPHA:897
- Noonan syndrome with multiple lentigines ORPHA:500
- Fraser syndrome ORPHA:2052
- Mitochondrial myopathy-lactic acidosis-deafness syndrome ORPHA:2597
- Alström syndrome ORPHA:64
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome ORPHA:1144
- Lethal ataxia with deafness and optic atrophy ORPHA:1187
- Ataxia-deafness-intellectual disability syndrome ORPHA:1188
- Burn-McKeown syndrome ORPHA:1200
- Maxillonasal dysplasia ORPHA:1248
- Cataract-ataxia-deafness syndrome ORPHA:1368
- Richards-Rundle syndrome ORPHA:1399
- Xq21 microdeletion syndrome ORPHA:1435
- Corneal dystrophy-perceptive deafness syndrome ORPHA:1490
- Craniofacial-deafness-hand syndrome ORPHA:1529
- Ectodermal dysplasia-sensorineural deafness syndrome ORPHA:1883
- Cleft lip/palate-deafness-sacral lipoma syndrome ORPHA:2003
- Gingival fibromatosis-progressive deafness syndrome ORPHA:2027
- Hirschsprung disease-deafness-polydactyly syndrome ORPHA:2155
- Palmoplantar keratoderma-deafness syndrome ORPHA:2202
- Ramos-Arroyo syndrome ORPHA:1051
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237
- Keratoderma hereditarium mutilans ORPHA:494
- Thickened earlobes-conductive deafness syndrome ORPHA:2405
- Lowe-Kohn-Cohen syndrome ORPHA:2408
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502
- Conductive deafness-malformed external ear syndrome ORPHA:3216
- RNF13-related severe early-onset epileptic encephalopathy ORPHA:544503
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- Otopalatodigital syndrome type 2 ORPHA:90652
- Oculoskeletodental syndrome ORPHA:557003
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome ORPHA:500144
- Mitchell Syndrome ORPHA:631248
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ORPHA:457351
- Gemignani syndrome ORPHA:2074
- Syndromic sensorineural deafness due to combined oxidative phosphorylation defect ORPHA:457223
- Nathalie syndrome ORPHA:2663
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome ORPHA:231720
- MYH9-related syndromic thrombocytopenia ORPHA:182050
- Microcephaly-deafness-intellectual disability syndrome ORPHA:2533
- Myoclonus-cerebellar ataxia-deafness syndrome ORPHA:2589
- N syndrome ORPHA:2608
- Nephropathy-deafness-hyperparathyroidism syndrome ORPHA:2668
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Neutropenia-monocytopenia-deafness syndrome ORPHA:2690
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome ORPHA:2698
- Olivopontocerebellar atrophy-deafness syndrome ORPHA:2732
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Spastic paraparesis-deafness syndrome ORPHA:2815
- Spastic paraplegia-nephritis-deafness syndrome ORPHA:2820
- Perrault syndrome ORPHA:2855
- Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome ORPHA:2866
- Deaf blind hypopigmentation syndrome, Yemenite type ORPHA:3214
- Deafness-small bowel diverticulosis-neuropathy syndrome ORPHA:3217
- Deafness-epiphyseal dysplasia-short stature syndrome ORPHA:3218
- Fountain syndrome ORPHA:3219
- Deafness-enamel hypoplasia-nail defects syndrome ORPHA:3220
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome ORPHA:3224
- Hearing loss-familial salivary gland insensitivity to aldosterone syndrome ORPHA:3225
- Deafness-oligodontia syndrome ORPHA:3230
- Deafness-onychodystrophy syndrome ORPHA:3231
- Deafness-ear malformation-facial palsy syndrome ORPHA:3232
- Cochleosaccular degeneration-cataract syndrome ORPHA:3233
- Progressive deafness with stapes fixation ORPHA:3235
- Multiple synostoses syndrome ORPHA:3237
- Cardiospondylocarpofacial syndrome ORPHA:3238
- Deafness-vitiligo-achalasia syndrome ORPHA:3239
- Deafness-craniofacial syndrome ORPHA:3241
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192
- Cataract-deafness-hypogonadism syndrome ORPHA:1383
- Caudal appendage-deafness syndrome ORPHA:1123
- Otopalatodigital syndrome type 1 ORPHA:90650
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ORPHA:1171
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome ORPHA:3240
- Tietz syndrome ORPHA:42665
- Thiamine-responsive megaloblastic anemia syndrome ORPHA:49827
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Branchiogenic deafness syndrome ORPHA:50815
- Mohr-Tranebjaerg syndrome ORPHA:52368
- Branchiootic syndrome ORPHA:52429
- X-linked Charcot-Marie-Tooth disease ORPHA:64747
- X-linked Charcot-Marie-Tooth disease type 5 ORPHA:99014
- X-linked Charcot-Marie-Tooth disease type 1 ORPHA:101075
- X-linked Charcot-Marie-Tooth disease type 2 ORPHA:101076
- X-linked Charcot-Marie-Tooth disease type 3 ORPHA:101077
- X-linked Charcot-Marie-Tooth disease type 4 ORPHA:101078
- X-linked Charcot-Marie-Tooth disease type 6 ORPHA:352675
- Sensorineural hearing loss-early graying-essential tremor syndrome ORPHA:66633
- Bosley-Salih-Alorainy syndrome ORPHA:69737
- Athabaskan brainstem dysgenesis syndrome ORPHA:69739
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome ORPHA:71267
- Split hand-split foot-deafness syndrome ORPHA:71271
- Developmental malformations-deafness-dystonia syndrome ORPHA:79107
- Deafness-intellectual disability syndrome, Martin-Probst type ORPHA:85321
- Bartter syndrome type 4 ORPHA:89938
- Deafness with labyrinthine aplasia, microtia, and microdontia ORPHA:90024
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome ORPHA:90103
- Deafness-hypogonadism syndrome ORPHA:90646
- Jervell and Lange-Nielsen syndrome ORPHA:90647
- Charcot-Marie-Tooth disease type 1E ORPHA:90658
- Deafness-infertility syndrome ORPHA:94064
- Riboflavin transporter deficiency ORPHA:97229
- RFVT2-related riboflavin transporter deficiency ORPHA:572543
- RFVT3-related riboflavin transporter deficiency ORPHA:572550
- Neuropathy with hearing impairment ORPHA:139512
- Stapes ankylosis with broad thumbs and toes ORPHA:140917
- Bilateral microtia-deafness-cleft palate syndrome ORPHA:140963
- Renal caliceal diverticuli-deafness syndrome ORPHA:2838
- Spondyloepiphyseal dysplasia, MacDermot type ORPHA:163668
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome ORPHA:500188
- Combined oxidative phosphorylation defect type 25 ORPHA:447954
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- Hereditary sensory neuropathy-deafness-dementia syndrome ORPHA:456318
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome ORPHA:494444
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Auditory neuropathy-optic atrophy syndrome ORPHA:542585
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome ORPHA:633014
- SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome ORPHA:633021
- SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome ORPHA:633024
- Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome ORPHA:659975
- Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome ORPHA:662179
- Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome ORPHA:684216
- Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome ORPHA:688581
- Turnpenny-Fry syndrome ORPHA:688642
- Adult-onset progressive leukoencephalopathy-early-onset deafness ORPHA:652532
- PBX1-related congenital anomalies of kidney-urinary tract syndrome ORPHA:656130
- Sudden sensorineural hearing loss ORPHA:90059
- Non-syndromic genetic deafness ORPHA:87884
- Rare autosomal recessive non-syndromic sensorineural deafness type DFNB ORPHA:90636
- Rare mitochondrial non-syndromic sensorineural deafness ORPHA:90641
- Rare X-linked non-syndromic sensorineural deafness type DFN ORPHA:90625
- Rare autosomal dominant non-syndromic sensorineural deafness type DFNA ORPHA:90635
- Silent sinus syndrome ORPHA:71276
- Isolated congenital anosmia ORPHA:88620
- Rare otorhinolaryngological malformation ORPHA:96333
- Cysts and fistulae of the face and oral cavity ORPHA:155835
- Familial thyroglossal duct cyst ORPHA:93953
- First branchial cleft anomaly ORPHA:141013
- Second branchial cleft anomaly ORPHA:141022
- Third branchial cleft anomaly ORPHA:141030
- Fourth branchial cleft anomaly ORPHA:141037
- Cervical dermoid cyst ORPHA:141046
- Facial dermoid cyst ORPHA:141051
- Commissural lip fistula ORPHA:141061
- Isolated lower lip fistula ORPHA:141064
- Cervicofacial fibrochondroma ORPHA:141067
- Isolated digestive duplication cyst of the tongue ORPHA:141071
- Nasal dermoid cyst ORPHA:141103
- Nasal dorsum fistula ORPHA:141219
- Pinnae fistula or cyst ORPHA:155838
- Otomandibular dysplasia ORPHA:155896
- Auriculocondylar syndrome ORPHA:137888
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- Mandibulofacial dysostosis ORPHA:155899
- Treacher-Collins syndrome ORPHA:861
- Acrodysostosis ORPHA:950
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Otomandibular dysplasia associated with monogenic syndromes ORPHA:156202
- Pinnae and external auditory canal anomaly ORPHA:156243
- Microtia ORPHA:83463
- Anotia ORPHA:93976
- External auditory canal aplasia/hypoplasia ORPHA:141074
- External auditory canal atresia-vertical talus-hypertelorism syndrome ORPHA:3023
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome ORPHA:500188
- Nose and cavum anomaly ORPHA:156246
- Lymphedema-posterior choanal atresia syndrome ORPHA:99141
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Burn-McKeown syndrome ORPHA:1200
- Blepharonasofacial malformation syndrome ORPHA:1252
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Bifid nose ORPHA:2695
- Radial ray hypoplasia-choanal atresia syndrome ORPHA:3026
- Isolated arrhinia ORPHA:1134
- Intractable diarrhea-choanal atresia-eye anomalies syndrome ORPHA:137622
- Choanal atresia ORPHA:137914
- Nasolacrimal duct cyst ORPHA:141083
- Polyrrhinia ORPHA:141091
- Supernumerary nostril ORPHA:141096
- Proboscis lateralis ORPHA:141099
- Nasal glial heterotopia ORPHA:141112
- Nasal encephalocele ORPHA:141118
- Craniorhiny ORPHA:157832
- Isolated congenital nasal pyriform aperture stenosis ORPHA:162516
- BNAR syndrome ORPHA:217266
- Supratip dysplasia ORPHA:466695
- Familial congenital nasolacrimal duct obstruction ORPHA:451612
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Larynx anomaly ORPHA:156249
- Congenital laryngomalacia ORPHA:2373
- Isolated congenital laryngeal web ORPHA:2374
- Larynx atresia ORPHA:1202
- Laryngocele ORPHA:2372
- Laryngotracheoesophageal cleft ORPHA:2004
- Laryngotracheoesophageal cleft type 1 ORPHA:93938
- Laryngotracheoesophageal cleft type 2 ORPHA:93939
- Laryngotracheoesophageal cleft type 3 ORPHA:93940
- Laryngotracheoesophageal cleft type 4 ORPHA:93941
- Laryngotracheoesophageal cleft type 0 ORPHA:280205
- Congenital velopharyngeal incompetence ORPHA:2291
- Laryngeal abductor paralysis ORPHA:2808
- Primary laryngeal lymphangioma ORPHA:137926
- Congenital laryngeal palsy ORPHA:137932
- Airway infantile hemangioma ORPHA:137935
- Congenital subglottic stenosis ORPHA:141121
- Congenital laryngeal cyst ORPHA:141124
- Tracheal anomaly ORPHA:156252
- Tracheal agenesis ORPHA:3346
- Congenital tracheomalacia ORPHA:95430
- Congenital tracheal stenosis ORPHA:141127
- Middle and/or inner ear anomaly ORPHA:164004
- Rare otorhinolaryngologic tumor ORPHA:98061
- Intraoral basal cell carcinoma ORPHA:667678
- Squamous cell carcinoma of the oropharynx ORPHA:500478
- Squamous cell carcinoma of oral cavity and lip ORPHA:502369
- Squamous cell carcinoma of the oral cavity ORPHA:502363
- Squamous cell carcinoma of the lip ORPHA:502366
- Squamous cell carcinoma of the nasal cavity and paranasal sinuses ORPHA:500464
- Nasopharyngeal carcinoma ORPHA:150
- Laryngeal neuroendocrine tumor ORPHA:100083
- Middle ear neuroendocrine tumor ORPHA:100084
- Epignathus ORPHA:141077
- Nasopharyngeal teratoma ORPHA:141107
- Nasal glial heterotopia ORPHA:141112
- Nasal ganglioglioma ORPHA:141115
- Juvenile nasopharyngeal angiofibroma ORPHA:289596
- Squamous cell carcinoma of the hypopharynx ORPHA:494547
- Squamous cell carcinoma of the larynx ORPHA:494550
- Vestibular schwannoma ORPHA:252175
- Syndrome or malformation associated with head and neck malformations ORPHA:156237
- Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280
- CHARGE syndrome ORPHA:138
- BOR syndrome ORPHA:107
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Monosomy 18q syndrome ORPHA:1600
- Postaxial acrofacial dysostosis ORPHA:246
- Isolated Pierre Robin sequence ORPHA:718
- Proteus syndrome ORPHA:744
- Sturge-Weber syndrome ORPHA:3205
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Van der Woude syndrome ORPHA:888
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Arthrogryposis multiplex congenita-whistling face syndrome ORPHA:1150
- Maxillonasal dysplasia ORPHA:1248
- CHAND syndrome ORPHA:1401
- EEC syndrome ORPHA:1896
- Multiple pterygium-malignant hyperthermia syndrome ORPHA:2215
- Marden-Walker syndrome ORPHA:2461
- Adducted thumbs-arthrogryposis syndrome, Christian type ORPHA:2952
- Van den Ende-Gupta syndrome ORPHA:2460
- Otopalatodigital syndrome type 1 ORPHA:90650
- Isolated ankyloblepharon filiforme adnatum ORPHA:91397
- Rare disease with Pierre Robin syndrome ORPHA:138044
- TARP syndrome ORPHA:2886
- Pierre Robin syndrome associated with collagen disease ORPHA:138041
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Kniest dysplasia ORPHA:485
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Pierre Robin syndrome associated with a chromosomal anomaly ORPHA:138047
- 22q11.2 deletion syndrome ORPHA:567
- Contractures-developmental delay-Pierre Robin syndrome ORPHA:436003
- 21q22.11q22.12 microdeletion syndrome ORPHA:261323
- Pierre Robin syndrome associated with branchial archs anomalies ORPHA:138050
- Pierre Robin syndrome associated with bone disease ORPHA:138055
- Apert syndrome ORPHA:87
- Atelosteogenesis type I ORPHA:1190
- Atelosteogenesis type II ORPHA:56304
- Atelosteogenesis type III ORPHA:56305
- Cornelia de Lange syndrome ORPHA:199
- Teratogenic Pierre Robin syndrome ORPHA:138059
- Phenobarbital embryopathy ORPHA:1919
- Toluene embryopathy ORPHA:1920
- Methimazole embryofetopathy ORPHA:1923
- Diabetic embryopathy ORPHA:1926
- Maternal phenylketonuria syndrome ORPHA:2209
- Maternal hyperthermia-induced birth defects ORPHA:2216
- Isotretinoin syndrome ORPHA:2305
- Fetal alcohol syndrome ORPHA:1915
- Fetal parvovirus syndrome ORPHA:295
- Fetal valproate spectrum disorder ORPHA:1906
- Aminopterin/methotrexate embryofetopathy ORPHA:1908
- Indomethacin embryofetopathy ORPHA:1909
- Fetal iodine syndrome ORPHA:1910
- Cocaine embryofetopathy ORPHA:1911
- Fetal minoxidil syndrome ORPHA:1918
- Fetal hydantoin syndrome ORPHA:1912
- Fetal trimethadione syndrome ORPHA:1913
- Vitamin K antagonist embryofetopathy ORPHA:1914
- Fetal methylmercury syndrome ORPHA:1917
- Propylthiouracil embryofetopathy ORPHA:485358
- Intellectual disability-brachydactyly-Pierre Robin syndrome ORPHA:364577
- Orofacial clefting syndrome ORPHA:139039
- Meckel syndrome ORPHA:564
- Diamond-Blackfan anemia ORPHA:124
- Roberts syndrome ORPHA:3103
- Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
- Carey-Fineman-Ziter syndrome ORPHA:1358
- Aase-Smith syndrome ORPHA:916
- Ablepharon macrostomia syndrome ORPHA:920
- Abruzzo-Erickson syndrome ORPHA:921
- Bamforth-Lazarus syndrome ORPHA:1226
- Bencze syndrome ORPHA:1241
- Branchio-oculo-facial syndrome ORPHA:1297
- Catel-Manzke syndrome ORPHA:1388
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
- Crane-Heise syndrome ORPHA:1512
- Femoral-facial syndrome ORPHA:1988
- Pai syndrome ORPHA:1993
- Cleft lip-retinopathy syndrome ORPHA:1995
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome ORPHA:2001
- Cleft lip/palate-deafness-sacral lipoma syndrome ORPHA:2003
- Acrocardiofacial syndrome ORPHA:2008
- Cleft palate-large ears-small head syndrome ORPHA:2013
- Cleft palate-lateral synechia syndrome ORPHA:2016
- Genitopalatocardiac syndrome ORPHA:2075
- Gordon syndrome ORPHA:376
- Hartsfield syndrome ORPHA:2117
- Holzgreve syndrome ORPHA:2167
- Hydrolethalus ORPHA:2189
- Hypertelorism-microtia-facial clefting syndrome ORPHA:2213
- Juberg-Hayward syndrome ORPHA:2319
- Kapur-Toriello syndrome ORPHA:2328
- Macrosomia-microphthalmia-cleft palate syndrome ORPHA:2432
- Dysraphism-cleft lip/palate-limb reduction defects syndrome ORPHA:2476
- Microbrachycephaly-ptosis-cleft lip syndrome ORPHA:2511
- Microcephaly-cleft palate-abnormal retinal pigmentation syndrome ORPHA:2521
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome ORPHA:2631
- Oculo-palato-cerebral syndrome ORPHA:2714
- Odontotrichomelic syndrome ORPHA:2723
- Lethal omphalocele-cleft palate syndrome ORPHA:2736
- W syndrome ORPHA:2804
- PARC syndrome ORPHA:2825
- Fuhrmann syndrome ORPHA:2854
- Pierre Robin syndrome-faciodigital anomaly syndrome ORPHA:2888
- RAPADILINO syndrome ORPHA:3021
- Richieri Costa-Pereira syndrome ORPHA:3102
- Robin sequence-oligodactyly syndrome ORPHA:3104
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome ORPHA:3201
- Cleft lip/palate-ectodermal dysplasia syndrome ORPHA:3253
- Thomas syndrome ORPHA:3316
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Toriello-Carey syndrome ORPHA:3338
- Velo-facial-skeletal syndrome ORPHA:3424
- Verloove Vanhorick-Brubakk syndrome ORPHA:3429
- Weaver-Williams syndrome ORPHA:3448
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome ORPHA:477993
- Hardikar syndrome ORPHA:1415
- Cleft palate-short stature-vertebral anomalies syndrome ORPHA:2015
- Dysmorphism-cleft palate-loose skin syndrome ORPHA:1779
- Syngnathia-cleft palate syndrome ORPHA:3263
- Larsen syndrome ORPHA:503
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome ORPHA:77300
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Macular coloboma-cleft palate-hallux valgus syndrome ORPHA:91494
- Bilateral microtia-deafness-cleft palate syndrome ORPHA:140963
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Native American myopathy ORPHA:168572
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ORPHA:306542
- X-linked cleft palate and ankyloglossia ORPHA:324601
- Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome ORPHA:660021
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476
- Oculomaxillofacial dysostosis ORPHA:1794
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Isolated congenital syngnathia ORPHA:141214
- Popliteal pterygium syndrome ORPHA:294963
- Otopalatodigital syndrome type 2 ORPHA:90652
- SATB2-associated syndrome ORPHA:576278
- Idiopathic bilateral vestibulopathy ORPHA:171684
- Mal de débarquement ORPHA:210272
- Semicircular canal dehiscence syndrome ORPHA:420402
- Eosinophilic angiocentric fibrosis ORPHA:449566
- IgG4-related submandibular gland disease ORPHA:449432
- IgG4-related dacryoadenitis and sialadenitis ORPHA:79078
- Recurrent respiratory papillomatosis ORPHA:60032
- Idiopathic subglottic stenosis ORPHA:652681