McKusick-Kaufman syndrome

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McKusick-Kaufman syndrome

Synonyms: Hydrometrocolpos-postaxial polydactyly syndrome | Kaufman-Mckusick syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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