Crucial
It is feasible that the main title of the record Oculocerebral Syndrome with Hypopigmentation is not the name you anticipated. Kindly check the words specifying to locate the alternating name(s) and problem class(s) covered by this record.
Basic synonyms
- Cross Syndrome
- Cross-McKusick-Breen Syndrome
- Kramer Syndrome
- Depigmentation-Gingival Fibromatosis-Microphthalmia
Disorder Communities
- None
General Discussion
Oculocerebral Disorder with Hypopigmentation is an exceptionally rare inherited condition identified by the lack of healthy color (hypopigmentation) of the skin as well as hair and also abnormalities of the main peripheral nervous system that influence the eyes and also specific components of the human brain (oculocerebral). Physical searchings for at birth consist of abnormally light skin color and also silvery-gray hair. Abnormal searchings for related to the central nervous system could consist of irregular smallness of one or both eyes (microphthalmia); clouding (opacities) of the front, clear part of the eye whereby light passes (cornea); and/or quick, involuntary eye motions (nystagmus). Additional signs and symptoms that could create throughout infancy include spontaneous contraction, associated loss of muscular tissue feature (spastic paraplegia), developmental delays, and/or mental deficiency. Oculocerebral Disorder with Hypopigmentation is thought to be acquired as an autosomal recessive genetic attribute.