Term Name:	Roberts syndrome
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.
Ontology:	Human Disease [DOID:5325]   ( DOID:5325 )