ataxia-photosensitivity-short stature syndrome
Findings
No curated finding names ataxia-photosensitivity-short stature syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0015248), read 2026-09-29. CC BY 4.0.
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Very frequent (80% to 99% of cases)
Show the remaining 4
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Cubitus valgusHPOHP:0002967
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: ataxia-photosensitivity-short stature syndrome
- Also called
- Fenton Wilkinson Toselano syndromeFenton-Wilkinson-Toselano syndrome