Richieri Costa-Pereira syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome | Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome

Richieri Costa-Pereira syndrome is characterized by short stature Robin sequence cleft mandible pre/postaxial hand anomalies (including hypoplastic thumbs) and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is 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 July 2024

Newly diagnosed with
Richieri Costa-Pereira 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.