Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
ORPHA:280679· ICD-10 Q87.8
Definition
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- All ages