Martinez Monasterio Pinheiro syndrome
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.
MONDO:0007339
blepharocheilodontic syndrome
is_a
cleft lip-palate-oligodontia-syndactyly-hair alterations
related
cleft lip/palate oligodontia syndactyly hair alterations
related