Conditions / Syndrome
trichorhinophalangeal syndrome type I
info · Syndrome
A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
Signs and symptoms
- Short stature
- Long philtrum
- Brachydactyly
- Bulbous nose
- Thin upper lip vermilion
- Protruding ear
- Sparse scalp hair
- Coxa magna
- Delayed eruption of teeth
- Generalized hypotonia
Also known as: trichorhinophalangeal syndrome type 1; type I trichorhinophalangeal syndrome