domingo, 27 de enero de 2019

Ear, Nose, and Throat Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Ear, Nose, and Throat Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Ear, Nose, and Throat Diseases

22q11.2 deletion syndrome 
Ablepharon macrostomia syndrome 
Abruzzo-Erickson syndrome 
Albinism deafness syndrome 
Albinism ocular late onset sensorineural deafness 
Alport syndrome 
Alström syndrome 
Ankyloblepharon filiforme imperforate anus 
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 
Athabaskan brainstem dysgenesis 
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 
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 
Cleft hand absent tibia 
Cleft palate short stature vertebral anomalies 
Cockayne syndrome type I 
Cockayne syndrome type II 
Cockayne syndrome type III 
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 
Ectropion inferior cleft lip and or palate 
EEC syndrome 
Ermine phenotype 
Escher Hirt syndrome 
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 
Hay-Wells syndrome 
Hemifacial hyperplasia strabismus 
Hemifacial microsomia 
Hereditary sensory and autonomic neuropathy type 1E 
Histiocytosis-lymphadenopathy plus syndrome 
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 
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 
Native American myopathy 
Nephropathy, deafness, and hyperparathyroidism 
Neurofibromatosis type 2 
Norrie disease 
Novak syndrome 
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 
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 
Stickler syndrome type 1 
Stickler syndrome, type 2 
Stickler syndrome, type 3 
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 

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