Ataxia-photosensitivity-short stature syndrome

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. Additional 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.

Also known as: Fenton Wilkinson Toselano syndrome, Fenton-Wilkinson-Toselano syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Ataxia-photosensitivity-short stature syndrome itself.