Coffin-Lowry syndrome
ORPHA:192· ICD-10 Q87.0
Definition
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.
- Prevalence
- 1-9 / 100 000
- Inheritance
- X-linked dominant
- Age of onset
- Childhood, Infancy, Neonatal