McKusick-Kaufman syndrome
ORPHA:2473· ICD-10 Q87.8
Definition
A rare genetic syndrome with multiple congenital anomalies characterized by urogenital malformations, mainly hydrometrocolpos (HMC) in females, postaxial polydactyly (PAP) and congenital heart disease (CHD). The disorder is allelic with Bardet-Biedl syndrome 6 (BBS6).
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal