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ataxia-photosensitivity-short stature syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ataxia-photosensitivity-short stature syndrome

MONDO:0015248

Also known as:Fenton Wilkinson Toselano syndrome

Overview

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.

Diagnosis

Biomarker and diagnostic research for ataxia-photosensitivity-short stature syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ataxia-photosensitivity-short stature syndrome.

301 publications have been identified in PubMed for ataxia-photosensitivity-short stature syndrome. Kisho has analyzed 202 by research type. Research spans Case Report / Case Series (27%), Epidemiology / Natural History (26%), and Review / Meta-Analysis (23%).

Research Type	Count	% of Total
Patient case studies	55	27%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1184

GARD

Genetic and Rare Diseases Info Center

GARD:2287

Questions for Your Care Team

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ataxia-photosensitivity-short stature syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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