Conditions / Syndrome
trichorhinophalangeal syndrome type II
info · Syndrome
A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease with symptoms of sparse scalp hair, with symptoms of thin upper lip, w
A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease with symptoms of sparse scalp hair, with symptoms of thin upper lip, with symptoms of rounded nose.
Signs and symptoms
- Multiple long-bone exostoses
- Cone-shaped epiphyses of the phalanges of the hand
- Scoliosis
- Sparse scalp hair
- Gynecomastia
- Bulbous nose
- Hearing impairment
- Mild postnatal growth retardation
- Scapular exostoses
- Fragile nails
Also known as: Langer-Giedion syndrome; Trichorhinophalangeal dysplasia type II; trichorhinophalangeal syndrome type 2