Disease association ontology term - MONDO:0009998 - Richieri Costa-Pereira syndrome
Term summary
- ID
- MONDO:0009998
- Name
- Richieri Costa-Pereira syndrome
- Ontology or CV name
- Disease association
- Definition
- 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.
