22q11.2 deletion syndrome
Ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
Acrodysostosis
Albinism deafness syndrome
Albinism ocular late onset sensorineural deafness
Alport syndrome
Alström syndrome
Ankyloblepharon filiforme imperforate anus
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Apert syndrome
Arhinia choanal atresia microphthalmia
Arthrogryposis multiplex congenita whistling face
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
Arthrogryposis-like hand anomaly and sensorineural deafness
Arts syndrome
Atelosteogenesis type 1
Atelosteogenesis type 2
Atelosteogenesis type 3
Auditory neuropathy spectrum disorder
Auriculo-condylar syndrome
Ausems Wittebol-Post Hennekam syndrome
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal recessive Alport syndrome
Ayazi syndrome
Bamforth syndrome
Barakat syndrome
Bartter syndrome type 4
Bifid nose
Bifid nose with or without anorectal and renal anomalies
Bixler Christian Gorlin syndrome
Blepharo-cheilo-odontic syndrome
Blepharonasofacial malformation syndrome
Branchial arch syndrome X-linked
Branchiooculofacial syndrome
Branchiootic syndrome
Branchiootorenal syndrome
Carey-Fineman-Ziter syndrome
Cataract ataxia deafness
Catel Manzke syndrome
Caudal appendage deafness
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
Cerebro-oculo-facio-skeletal syndrome
Charcot-Marie-Tooth disease type 1E
CHARGE syndrome
Chitayat Meunier Hodgkinson syndrome
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Cholesteatoma
Cleft hand absent tibia
Cleft palate short stature vertebral anomalies
Cockayne syndrome type I
Cockayne syndrome type II
Cockayne syndrome type III
COG1-CDG (CDG-IIg)
Conductive deafness with malformed external ear
Congenital anosmia
Congenital deafness with vitiligo and achalasia
Congenital laryngeal palsy
Congenital tracheal stenosis
Congenital tracheomalacia
Corneal dystrophy and perceptive deafness
Cornelia de Lange syndrome
Crane-Heise syndrome
Craniofacial deafness hand syndrome
Deafness and myopia syndrome
Deafness enamel hypoplasia nail defects
Deafness hypogonadism syndrome
Deafness oligodontia syndrome
Deafness, epiphyseal dysplasia, short stature
Deafness, X-linked 2
Deafness-infertility syndrome
Deafness-lymphedema-leukemia syndrome
Dentatorubral-pallidoluysian atrophy
Diamond-Blackfan anemia
DOOR syndrome
Duchenne muscular dystrophy
EEC syndrome
Ermine phenotype
Familial thyroglossal duct cyst
Feigenbaum Bergeron Richardson syndrome
Femoral facial syndrome
Fetal hydantoin syndrome
Fetal indomethacin syndrome
Fetal methylmercury syndrome
Fetal minoxidil syndrome
Fetal valproate syndrome
Fitzsimmons Walson Mellor syndrome
Fountain syndrome
Fragile X syndrome
Fraser syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - See
Frontonasal dysplasia
Fryns syndrome
Fuhrmann syndrome
Gemignani syndrome
Genito palato cardiac syndrome
Goldberg-Shprintzen megacolon syndrome
Goldenhar disease
Gordon syndrome
Groll Hirschowitz syndrome
Hardikar syndrome
Hemifacial hyperplasia strabismus
Hemifacial microsomia
Hereditary sensory and autonomic neuropathy type 1E
Histiocytosis-lymphadenopathy plus syndrome
Human HOXA1 Syndromes
Hydrocephalus-cleft palate-joint contractures syndrome
Hyperthermia induced defects
IgG4-related dacryoadenitis and sialadenitis
Immunodysregulation, polyendocrinopathy and enteropathy X-linked
Jervell Lange-Nielsen syndrome
Jones syndrome
Juberg-Hayward syndrome
Kabuki syndrome
Kapur Toriello syndrome
Kearns-Sayre syndrome
Keratoderma palmoplantar deafness
KID syndrome
Kniest dysplasia
Knuckle pads, leuconychia and sensorineural deafness
Lacrimo-auriculo-dento-digital syndrome
Lambert syndrome
Larsen syndrome
Laryngomalacia
Larynx atresia
LEOPARD syndrome
Macrosomia with lethal microphthalmia
Mal de debarquement syndrome
Malignant hyperthermia arthrogryposis torticollis
Mandibulofacial dysostosis with microcephaly
Marden-Walker syndrome
Maternal hyperphenylalaninemia
Maternally inherited diabetes and deafness
Maxillonasal dysplasia, Binder type
Meckel syndrome
Medeira-Dennis-Donnai syndrome
Median cleft of upper lip with polyps of facial skin and nasal mucosa
Ménière's disease
- Not a rare disease
Mesomelic dwarfism cleft palate camptodactyly
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Methimazole antenatal exposure
Microbrachycephaly ptosis cleft lip
Microcephaly deafness syndrome
Miller syndrome
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Mitochondrial myopathy with lactic acidosis
Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
Mohr-Tranebjaerg syndrome
Multiple synostoses syndrome 1
Myoclonus cerebellar ataxia deafness
N syndrome
Nager acrofacial dysostosis
Nathalie syndrome
Nephropathy, deafness, and hyperparathyroidism
Neurofibromatosis type 2
Norrie disease
Odontotrichomelic syndrome
Olivopontocerebellar atrophy deafness
Omphalocele cleft palate syndrome lethal
Orofaciodigital syndrome 1
Orofaciodigital syndrome 10
Orofaciodigital syndrome 11
Orofaciodigital syndrome 2
Orofaciodigital syndrome 3
Orofaciodigital syndrome 4
Orofaciodigital syndrome 5
Orofaciodigital syndrome 6
Orofaciodigital syndrome 8
Orofaciodigital syndrome 9
Oto-palato-digital syndrome type 1
Oto-palato-digital syndrome type 2
Palatopharyngeal incompetence
Pallister W syndrome
PARC syndrome
Patulous Eustachian Tube
- Not a rare disease
Pendred syndrome
Perrault syndrome
Phenobarbital antenatal exposure
Phocomelia ectrodactyly deafness sinus arrhythmia
Pierre Robin sequence
Popliteal pterygium syndrome
Popliteal pterygium syndrome, Bartsocas-Papas type
Progressive deafness with stapes fixation
Proteus syndrome
Proximal chromosome 18q deletion syndrome
Radial ray hypoplasia choanal atresia
Ramos Arroyo Clark syndrome
Rapadilino syndrome
Reardon Wilson Cavanagh syndrome
Recurrent respiratory papillomatosis
Renal tubular acidosis with deafness
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
RFT1-CDG (CDG-In)
Riboflavin transporter deficiency
Richards-Rundle syndrome
Richieri Costa Pereira syndrome
Roberts syndrome
Say syndrome
SeSAME syndrome
Short stature deafness neutrophil dysfunction
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
STAC3 Disorder
Sturge-Weber syndrome
Syngnathia cleft palate
TARP syndrome
Thiamine responsive megaloblastic anemia syndrome
Tietz syndrome
Toriello-Carey syndrome
Townes-Brocks syndrome
Tracheal agenesis
Treacher Collins syndrome
Usher syndrome type 2A
Usher syndrome, type 1
Van den Ende Gupta syndrome
Van der Woude syndrome
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Verloove Vanhorick Brubakk syndrome
Vestibulocochlear dysfunction, progressive
Vocal cord dysfunction familial
Vohwinkel syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 3
Waardenburg syndrome type 4
Warfarin syndrome
Weissenbacher-Zweymuller syndrome
Wells-Jankovic syndrome
Wolf-Hirschhorn syndrome
Wolfram syndrome
X-linked Charcot-Marie-Tooth disease type 1 - See
Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 2 - See
Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 3 - See
Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 4 - See
Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 5 - See
Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 6 - See
Charcot-Marie-Tooth disease
Yemenite deaf-blind hypopigmentation syndrome
Zlotogora syndrome
