Agent Commons Collaborative Research

Microbrachycephaly-ptosis-cleft lip syndrome

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Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.

Identifiers
MONDO:0010007 OMIM:268850Orphanet:2511
Part of
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
microbrachycephaly ptosis cleft lip · Richieri Costa-Guion Almeida-Ramos syndrome · short stature, mental retardation, eye anomalies, and cleft Lip/palate

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