microcephaly-albinism-digital anomalies syndrome
MeSH: C537322ORPHA: 2513
Overview
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe
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 microcephaly-albinism-digital anomalies syndrome, sourced from HPO and Orphanet clinical annotations.
Global developmental delayMicrocephalyMicrognathiaHypopigmentation of the skinIris hypopigmentationShort distal phalanx of fingerAplasia/Hypoplasia of the distal phalanges of the toes
Classification & Codes
MeSH Code
C537322Orphanet Code
ORPHA:2513microcephaly-albinism-digital anomalies syndrome
| MeSH | C537322 |
| Orphanet | ORPHA:2513 |
| Treatments | 0 drug(s) |
| Symptoms on record | 7 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO