Microbrachycephaly-ptosis-cleft lip syndrome
Microbrachycephaly-ptosis-cleft lip syndrome
Definition
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.
Also known as Richieri Costa-Guion Almeida-Ramos syndrome — per MONDO