Kansas Deaf-Blind Resources > Other Medical Conditions
Syndromes and Other Medical Conditions
Alport Syndrome
Alport syndrome is an inherited disease of the kidney that can also affect the inner ear (cochlea) and eye. It is caused by genetic mutations that affect the type IV collagen family of proteins. Type IV collagen is a major part of important tissue structures called basement membranes that are present in all tissues including the kidney, inner ear, and eye.
– The Alport Syndrome Foundation
For more information, visit:
Alport Syndrome Foundation – Hope, Action, Support
Batten Disease
Batten disease is a rare, fatal, inherited disorder of the nervous system that usually begins in childhood. The first symptom is usually progressive vision loss in previously healthy children followed by personality changes, behavioral problems and slow learning. Progressive loss of motor functions (movement and speech) start with clumsiness, stumbling and Parkinson-like symptoms; eventually, those affected become wheelchair-bound, are bedridden, and die prematurely.
– The Beyond Batten Disease Foundation
For more information, visit:
Beyond Batten Disease Foundation
CHARGE Syndrome
CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. Babies with CHARGE syndrome are often born with life-threatening birth defects.
– The CHARGE Syndrome Foundation
For more information, visit:
CHARGE Syndrome Foundation
Congenital Rubella Syndrome
For more information, visit:
https://rarediseases.info.nih.gov/diseases/4744/congenital-rubella
Cortical Visual Impairment
For more information, visit:
http://www.familyconnect.org/info/after-the-diagnosis/browse-by-condition/cortical-visual-impairment/123
For more information, visit:
Dandy-Walker Alliance
Goldenhar disease | Genetic and Rare Diseases Information Center …
Hunter Syndrome
For more information, visit:
Keratitis Ichthyosis Deafness Syndrome
Treacher Collins Syndrome
For more information, visit:
https://rarediseases.org/rare-diseases/treacher-collins-syndrome/
Turner Syndrome
For more information, visit:
https://rarediseases.org/rare-diseases/turner-syndrome/
Usher Syndrome Resources for Parent:
https://www.usher-syndrome.org/our-story/just-for-parents/welcome.html
Tips for Teachers with Students with Usher Syndrome and for more information, visit:
https://www.cde.state.co.us/cdesped/sd-db_factsheetwp_tipsforteachers_usher
Wolf-Hirschhorn Syndrome
For more information, visit:
Wolf-Hirschhorn Syndrome | Genetic and Rare Diseases Information …