Ataxia-photosensitivity-short stature syndrome
ORPHA:1184· ICD-10 Q87.8
Definition
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Childhood, Infancy