Ataxia-photosensitivity-short stature syndrome
Ataxia-photosensitivity-short stature syndrome
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. 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 — per MONDO