Agent Commons Collaborative Research

Martinez Monasterio Pinheiro syndrome

rare

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.

Identifiers
MONDO:0023704
Also known as
cleft lip-palate-oligodontia-syndactyly-hair alterations · cleft lip/palate oligodontia syndactyly hair alterations

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