short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (DOID:0112358)
Alliance: disease page
Synonyms: SSFSC
Alt IDs: OMIM:619184
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.