Kaufman syndrome:
The condition is named for Dr. Robert L. Kaufman and Victor McKusick. It is sometimes known by the abbreviation MKS.
In infancy it can be difficult to distinguish between MKS and the related Bardet–Biedl syndrome, as the more severe symptoms of the latter condition rarely materialise before adulthood.
McKusick-Kaufman syndrome affects 1 in 10,000 people in the Old Order Amish population. Research has not identified cases outside of this population.
Clinically, McKusick–Kaufman syndrome is characterized by a combination of three features: postaxial polydactyly, heart defects, and genital abnormalities:
- Vaginal atresia with hydrometrocolpos
- Double vagina and/or uterus.
- Hypospadias, chordee (a downward-curving penis), and undescended testes (cryptorchidism).
- Ureter stenosis or ureteric atresia
