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Microbrachycephaly-ptosis-cleft lip syndrome

MONDO:0010007

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, Richieri-COSTA/Guion-Almeida syndrome, microbrachycephaly ptosis cleft lip, sao Paulo MCA/Mr syndrome, short stature, intellectual disability, eye anomalies, and cleft Lip/palate, short stature, mental retardation, eye anomalies, and cleft Lip/palate

0 clinical trials for this condition and its sub-types, 0 tagged with Microbrachycephaly-ptosis-cleft lip syndrome itself.

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