Robin Sequence with Cleft Mandible and Limb Anomalies

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OMIM 57 268305 Orphanet 59 ORPHA3102 MESH via Orphanet 45 C535677 UMLS via Orphanet 74 C1849348 ICD10 via Orphanet 34 Q87.8

MedGen 42 C1849348 MeSH 44 D003025 D006228 D010855 SNOMED-CT via HPO 69 258211005 14582003 18910001 4602007 27272007 95515009 275478007 249311009 224958001 249808002 397932003 157265008 205170001 93288001 237836003 299035006 253936008 92822004 78164000 263057000 more UMLS 73 C1849348

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3102Disease definitionRichieri 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Robin Sequence with Cleft Mandible and Limb Anomalies, also known as richieri costa pereira syndrome, is related to rhizomelic chondrodysplasia punctata and clubfoot. 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 related phenotypes are low-set ears and high palate

OMIM : ⁵⁷ Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by Favaro et al., 2011). (268305)

UniProtKB/Swiss-Prot : ⁷⁵ Richieri-Costa-Pereira syndrome: A syndrome characterized by a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding.

Clinical features from OMIM:

268305

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