Costello syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Costello syndrome is a malformation that due to mutations in the HRAS arises gene.
Children with Costello's syndrome are often of normal size at birth, but their development is delayed. Particularly characteristic external features are short stature , unusually flexible joints, wrinkles from excess skin, especially on the hands ( washerwoman's hands ) and feet, thick lips, curly hair, mental retardation , craniofacial, cardiological and dermatological abnormalities. Furthermore, there is premature aging and an increased predisposition to a large number of tumors.
This disease was first reported in 1977 by the New Zealand pediatrician Costello; the underlying gene was only discovered in 2005. The disease is considered little researched.
A cardio-facial-cutaneous syndrome and Noonan's syndrome are to be distinguished .
