Microbrachycephaly-ptosis-cleft lip syndrome

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Microbrachycephaly-ptosis-cleft lip syndrome

Synonyms: Richieri Costa-Guion Almeida-Ramos syndrome

Microbrachycephaly-ptosis-cleft lip syndrome is characterised 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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