Roberts syndrome (DOID:5325)
Alliance: disease page
Synonyms: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE; RBS; Roberts-Sc Phocomelia Syndrome; SC phocomelia syndrome
Alt IDs: OMIM:268300, MESH:C535687, NCI:C4681, ORDO:3103, UMLS_CUI:C0392475
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.