Conditions / Syndrome
trichorhinophalangeal syndrome type III
info · Syndrome
A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23.
Signs and symptoms
- Long philtrum
- Brachydactyly
- Short stature
- Sparse hair
- Smooth philtrum
- Bulbous nose
- Thin upper lip vermilion
- Fine hair
- Sparse lateral eyebrow
- Hyperkeratosis
Also known as: trichorhinophalangeal syndrome type 3