Term Name:	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
Synonyms:	SSFSC2
Definition:	A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31.
Ontology:	Human Disease [DOID:0112358]   ( DOID:0112358 )