This section of the website is designed to provide further information about rare syndromes and causes of deafblindness.
A-Z list of causes
Aicardi syndrome
Alport syndrome
Alström Syndrome
Apert Syndrome
Asphyxia
Bardet-Biedl syndrome
Batten Disease
CHARGE association
Chromosome 18
Cockayne Syndrome
Cogan-Syndrome
Congenital Rubella
Cornelia de Lange Syndrome
Cri du Chat Syndrome
Crigler-Najjar syndrome
Crouzon Syndrome
Cytomegalovirus (CMV)
Dandy-Walker Syndrome
Direct Trauma to the eye and ear
Caused by accident in causing facial injuries damaging nerves for vision and hearing, pressure on eyes and ears to malfunction themselves, and other objects including foreign objects direct damaging the eyes and ears.
Down syndrome
Encephalitis
Fetal Alcohol syndrome
Goldenhar syndrome
Hand-Schüller-Christian disease (also known as Histiocytosis)
Herpes zoster (not at birth or childhood stage)
Hunter Syndrome (Mucopolysaccharidosis Type II or MPS II)
Hurler syndrome (Mucopolysaccharidosis Type IH or MPS IH)
Hydrocephaly / Hydrocephalus
Infectious diseases
In children, infectious diseases account for some vision impairments.
Venereal diseases, toxoplasmosis, tuberculosis, trachoma and cytomegalovirus (CMV) can also result in damage to the eyes, before or after birth.
Kearns-Sayre Syndrome
Klippel Feil/Wildervanck syndrome
Klippel-Trenaunay Syndrome
Kniest dysplasia
Leber's Congenital Amaurosis
Leigh's Disease
Marfan Syndrome
Marshall Syndrome
Maroteaux-Lamy Syndrome (MPS VI)
Maternal Drug Use
Meningitis
Microcephaly
Moebius Syndrome
Monosomy 10p
Morquio syndrome (MPS IV-B)
Neonatal Herpes Simplex (HSV)
NF1 - Neurofibromatosis (von Recklinghausen disease)
NF2 - Bilateral Acoustic Neurofibromatosis
Norrie disease
Optico-Cochleo-Dentate Degeneration
- No information on this syndrome is available online. There is a paper available: "Systemic optico-cochleo-dentate degeneration.- In: Handbook of clinical neurology, vol. 16/60: Hereditary neuropathies and spinocerebellar atrophies / de Jong J.M.B.V. [edit.], Amsterdam, Elsevier, 1991, p. 751-760".
Pallister Killian Mosaic Syndrome
Pfieffer syndrome (also spelt as Pfeiffer)
Prader-Willi
Pierre-Robin syndrome
Refsum syndrome
Scheie syndrome (MPS I-S)
Severe Head/Brain Injury
Smith-Lemli-Opitz (SLO) syndrome or SLOS
Stickler syndrome
Stroke
Sturge-Weber syndrome
Congenital Syphilis
Congenital Toxoplasmosis
Treacher Collins syndrome
Trisomy 13 (Trisomy 13-15, Patau syndrome)
Trisomy 18 (Edwards syndrome)
Turner syndrome
Usher's syndrome type I, II, III.
Vogt-Koyanagi-Harada syndrome
Waardenburg syndrome
Wolf-Hirschholm syndrome (Trisomy 4p)
