Ear, nose, and throat diseases

List of Rare Ear, Nose, and Throat Diseases

• 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 like syndrome

• 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 familial trichoepithelioma 1 - See Multiple familial trichoepithelioma

• 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 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

NIH genetic and rare disease info

• NIH info on Ear, nose, and throat diseases

Ear, nose, and throat diseases is a rare disease.