Etiologies

Causes of deafblindness (aetiologies).

Research points to the existence of more than 80 clinical conditions that may be causes of deafblindness. Source: Institute for Rare Disease Research.

The numbers accompanying the name of each disease is the number of people affected according to the American Census.

The documented Aetiologies are as follows:

Noonan Syndrome

Trisomy 18 or Edwards’ syndrome (149)

Wolfram syndrome

Neurofibromatosis or Von Recklinghausen’s disease (type I)

Use of medication during pregnancy

Brain tumour

Wolf-Hirschhorn syndrome (157)

Trisomy 13 or Patau Syndrome (148)

Batten disease (106)

Lowe’s syndrome

Drug use during pregnancy

Pallister-Killian syndrome

Rosenberg-Chutorian syndrome

Behçet’s syndrome

Vogt-Koyanagi-Harada syndrome or uveomeningeal

Zellweger syndrome

Ring 18 syndrome

Encephalitis (303)

Kniest’s dysplasia (126)

Optic-cochlear-dentate degeneration (138)

Wildervanck’s syndrome (156)

Cogan syndrome (110)

Treacher Collins syndrome (147)

Cri du Chat syndrome (112)

Crigler-Najjar syndrome (113)

Usher syndrome I (151)

Turner syndrome (150)

Usher syndrome II (152)

Usher syndrome III (153)

Waardenburg syndrome (155)

CHARGE syndrome (107)

Cockayne syndrome (109)

Cornelia de Lange syndrome (111)

Moebius syndrome (132)

Pffeifer syndrome (139)

Pierre-Robin syndrome (141)

Prader-Willi syndrome (140)

Refsum syndrome (142)

Scheie syndrome (143)

Smith-Lemli-Opitz syndrome (144)

Stickler syndrome (145)

Sturge-Weber syndrome (146)

Bardet-Biedl syndrome (105)

Marfan syndrome (129)

Maroteaux-Lamy syndrome (131)

Marshall syndrome (130)

Apert syndrome (104)

Crouzon syndrome (114)

Dandy-Walker syndrome (115)

Down’s syndrome (trisomy 21) (116)

Goldenhar syndrome (117)

Hallgren syndrome (119)

Hand-Schüller-Christian syndrome (119)

Hunter syndrome (121)

Hurler syndrome (122)

Kearns-Sayre syndrome (123)

Klippel Feil/Wildervanck syndrome (124)

Klippel-Trenaunay-Weber syndrome (125)

Aicardi syndrome (101)

Other postnatal/non-congenital complications (399)

Other prenatal/congenital complications (299)

Chemical (309)

Congenital syphilis (202)

Fetal alcohol syndrome (205)

Direct trauma to eye or ear (302)

Bilateral acoustic neurofibromatosis (type II) (136)

Alport syndrome (102)

Alström syndrome (103)

Severe head injuries (306)

Meningitis (305)

Complications of prematurity (401)

Stroke (307)

Hydrocephalus (206)

Undetermined aetiology (501)

Neonatal herpes simplex (209)

Infections (304)

Herpes Zoster (120)

Monosomy 10p (133)

Leigh’s disease (128)

Leber’s Congenital Retinal Amaurosis (127)

Asphyxia (301)

Morquio’s Disease (134)

Norrie’s disease (137)

Cytomegalovirus (204)