McKusick–Kaufman syndrome

Autosomal recessive - en

McKusick–Kaufman syndrome (MKS) is a rare genetic disorder characterized by a combination of congenital anomalies. It is an autosomal recessive condition, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected by the syndrome.

Clinical Features

McKusick–Kaufman syndrome is primarily characterized by the following features:

• Hydrometrocolpos: A condition where there is an accumulation of fluid in the uterus and vagina.
• Polydactyly: The presence of extra fingers or toes.
• Congenital heart defects: Various structural abnormalities of the heart present at birth.

Genetics

The syndrome is caused by mutations in the MKKS gene, which is located on chromosome 20. The MKKS gene is responsible for encoding a protein that is involved in the development of various organs and tissues during embryogenesis.

Diagnosis

Diagnosis of McKusick–Kaufman syndrome is based on clinical evaluation, identification of characteristic physical findings, and genetic testing to confirm mutations in the MKKS gene.

Management

Management of McKusick–Kaufman syndrome involves a multidisciplinary approach to address the various congenital anomalies. This may include:

• Surgical intervention to correct polydactyly and congenital heart defects.
• Monitoring and management of hydrometrocolpos to prevent complications.

Epidemiology

McKusick–Kaufman syndrome is a rare condition, with a higher prevalence in certain populations, such as the Old Order Amish community.

History

The syndrome was first described by Dr. Victor McKusick and Dr. Robert Kaufman in the 1960s. Their work laid the foundation for understanding the genetic basis and clinical manifestations of the disorder.

See Also

• Bardet–Biedl syndrome
• Polydactyly
• Congenital heart defect
• Hydrometrocolpos

External Links

-