Mikati-Najjar-Sahli syndrome
ORPHA:2558· ICD-10 E22.8
Definition
A rare syndrome with hypergonadotropic hypogonadism characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (including a narrow forehead, synophrys, abnormally folded pinna, and micrognathia). Early teeth loss, gynecomastia, cubitus valgus, genu valgum and cryptorchidism were reported in some patients. There have been no further descriptions in the literature since 1985.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal