Roberts syndrome

Term ID

DOID:5325

Synonyms

• LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
• RBS
• Roberts-Sc Phocomelia Syndrome
• SC phocomelia syndrome

Definition

A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1. (2)

References

• GARD:7387
• MESH:C535687
• NCI:C4681
• OMIM:268300
• ORDO:3103
• SNOMEDCT_US_2023_03_01:48718006
• UMLS_CUI:C0392475

Ontology

Human Disease   ( DOID:5325 )