Lujan-Fryns syndrome
ORPHA:776· ICD-10 Q87.8
Definition
The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal