Conditions / Genetic

cardiofaciocutaneous syndrome 2

info · Genetic

A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1.

Signs and symptoms

Absent eyebrow
Curly hair
Peripheral axonal neuropathy
Fine hair
Anteverted nares
Global developmental delay
Coarse facial features
Sparse hair
Ptosis
Broad forehead

Also known as: CFC2