Conditions / Genetic
geleophysic dysplasia 2
info · Genetic
A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1.
Signs and symptoms
- Short foot
- Limitation of joint mobility
- Short stature
- Short palm
- Long philtrum
- Short nose
- Thickened skin
- Smooth philtrum
- Hypertelorism
- Thin upper lip vermilion
Also known as: GPHYSD2