short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2

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 heterozygo

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.

Signs and symptoms

• Postnatal growth retardation
• Long face
• Short chin
• High forehead
• Triangular face
• Long nose
• Prominent nasal bridge
• Pointed chin
• Brachydactyly
• Dental crowding

Also known as: SSFSC2