Ataxia-photosensitivity-short stature syndrome

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Ataxia-photosensitivity-short stature syndrome

Synonyms: Fenton-Wilkinson-Toselano 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. 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Advocacy Organizations

National Ataxia Foundation

The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

Clinical Trials

For a list of clinical trials in this disease area, please click here.