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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.
Data assembled from 1 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC
Genetic and Rare Diseases Info Center
Common questions about Martinez Monasterio Pinheiro syndrome