Martinez Monasterio Pinheiro syndrome
MONDO:0023704Mondo
Findings
No curated finding names Martinez Monasterio Pinheiro syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.
Definition from the Mondo Disease Ontology (MONDO:0023704), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of