Meacham syndrome
ORPHA:3097· ICD-10 Q87.8
Definition
A very rare disorder of sex development characterized by atypical internal and external genital development, presenting as ambiguous or female-appearing external genitalia despite a 46,XY karyotype. It is also associated with diaphragmatic defects, complex congenital cardiac malformations, pulmonary abnormalities, and, in some cases, splenic and renal anomalies.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal