Conditions / Syndrome
McKusick-Kaufman syndrome
info · Syndrome
A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20
A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2.
Signs and symptoms
- Rectovaginal fistula
- Congenital hip dislocation
- Transverse vaginal septum
- Vesicovaginal fistula
- Anal atresia
- Pulmonary hypoplasia
- Postaxial hand polydactyly
- Hydroureter
- Aganglionic megacolon
- Pedal edema
Also known as: HMCS; Kaufman McKusick syndrome; MKKS; hydrometrocolpos syndrome; hydrometrocolpos, postaxial polydactyly, and congenital heart malformation