microcephaly-cleft palate syndrome
Findings
No curated finding names microcephaly-cleft palate syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.
Definition from the Mondo Disease Ontology (MONDO:0016750), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Bifid uvulaHPOHP:0000193
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Submucous cleft hard palateHPOHP:0000176
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Occasional (5% to 29% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Occasional (5% to 29% of cases)
- Global developmental delay
Where it sits
Other names
1 name
Resolves to: microcephaly-cleft palate syndrome
- Also called
- Halal syndrome