Spinocerebellar ataxia-dysmorphism syndrome

Definition

A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.

Disease data

Classification

Disease

ORPHA code

1185

OMIM code

271270

ICD10 code

G11.8

ICD11 code

*Soruce