ataxia-photosensitivity-short stature syndrome
ORPHA: 1184
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with ataxia-photosensitivity-short stature syndrome, sourced from HPO and Orphanet clinical annotations.
High palateDry skinCutaneous photosensitivityUrticariaAtaxiaReduced tendon reflexesClinodactyly of the 5th fingerShort statureBilateral single transverse palmar creasesAbnormality of movementCognitive impairmentAbnormality of the dentitionStrabismusGait disturbanceCubitus valgusAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:1184ataxia-photosensitivity-short stature syndrome
| Orphanet | ORPHA:1184 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO