Robin Sequence with Cleft Mandible and Limb Anomalies (RCPS)

Alias:

Richieri Costa-Pereira Syndrome

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

Richieri Costa Pereira Syndrome

Rcps

Richieri-Costa and Pereira Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Robin Sequence with Cleft Mandible and Limb Anomalies, also known as richieri costa-pereira syndrome, is related to acrofacial dysostosis and dysostosis. An important gene associated with Robin Sequence with Cleft Mandible and Limb Anomalies is EIF4A3 (Eukaryotic Translation Initiation Factor 4A3). Affiliated tissues include bone and cingulate cortex, and related phenotypes are hip dislocation and hip subluxation

Related ID：

MALACARDS：RBN014

OMIM：268305

MESH：D003025