Ataxia-photosensitivity-short stature syndrome

Orpha code: 1184OMIM code:

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Fenton-Wilkinson-Toselano syndrome
Zespół Fentona, Wilkinsona i Toselano
Kod ORPHA
1184
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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