microcephaly-albinism-digital anomalies syndrome
MONDO:0008750Mondo
Findings
No curated finding names microcephaly-albinism-digital anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008750), read 2026-09-29. CC BY 4.0.
Features
7 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.
- Aplasia/Hypoplasia of the distal phalanges of the toesHPOHP:0010185
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Very frequent (80% to 99% of cases)
- Iris hypopigmentationHPOHP:0007730
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: microcephaly-albinism-digital anomalies syndrome
- Also called
- Castro Gago-Pombo-Novo syndrome