SNP Shot: Genomic Insights

McKusick-Kaufman syndrome is a disorder impacting the development of the limbs (hands and feet), heart, and reproductive organs. Its key characteristics include the presence of extra digits (polydactyly), heart abnormalities, and genital anomalies.

A common finding in females with McKusick-Kaufman syndrome is hydrometrocolpos, a build-up of fluid within the pelvis. This is caused by a vaginal obstruction during fetal development, either due to incomplete vaginal formation (vaginal agenesis) or a membrane blocking the vaginal opening. This blockage leads to fluid accumulation in the vagina and uterus, causing them to swell and form a fluid-filled mass. In males with McKusick-Kaufman syndrome, genital abnormalities may manifest as hypospadias (urethral opening on the underside of the penis), chordee (downward curvature of the penis), or cryptorchidism (undescended testicles).

The clinical presentation of McKusick-Kaufman syndrome shares significant similarities with Bardet-Biedl syndrome, another genetic condition. However, Bardet-Biedl syndrome includes features absent in McKusick-Kaufman syndrome, such as vision impairment, developmental delays, obesity, and kidney failure. The delayed appearance of these features can make distinguishing between the two syndromes challenging in infants and young children.

Inheritance:

McKusick-Kaufman syndrome follows an autosomal recessive inheritance pattern. This means an individual must inherit a mutated copy of the responsible gene from both parents to develop the condition. While each parent carries one copy of the mutated gene, they usually do not exhibit any signs or symptoms of the syndrome.