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McKusick-Kaufman syndrome

Disease definition

A rare, genetic multiple congenital anomalies syndrome characterized by genitourinary malformations (hydrometrocolpos in females and in males, glanular hypospadias and prominent scrotal raphe) , postaxial polydactyly that may affect only one or several limbs, and to a lesser extent cardiac defects. Hydrometrocolpos is due to either a congenital obstruction, imperforate hymen or vaginal atressia, and causes a palpable mass and possibly hydronephrosis. Other anomalies occasionally reported include choanal atresia, pituitary dysplasia, esophageal atresia and distal tracheoesophageal fistula, Hirschsprung disease, vertebral anomalies, and hydrops fetalis. The disorder is allelic with Bardet-Biedl, and as some phenotypic overlap has been observed, patients should be reevaluated in later childhood for retinistis pigmentosas and other signs of Bardet-Biedl syndrome.

ORPHA:2473

Classification level: Disorder
  • Synonym(s):
    • Hydrometrocolpos-postaxial polydactyly syndrome
    • Kaufman-Mckusick syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 236700
  • UMLS: C0948368
  • MeSH: C538159
  • GARD: 3427
  • MedDRA: 10052312

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.