Microbrachycephaly-ptosis-cleft lip syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 June 2024

Newly diagnosed with
Microbrachycephaly-ptosis-cleft lip syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.