SNP Shot: Genomic Insights

Hand-foot-genital syndrome is a rare disorder impacting the development of hands, feet, the urinary system, and reproductive organs. Individuals with this syndrome typically exhibit shortened thumbs and big toes, curved small fingers (clinodactyly), small feet, and either fused or incompletely hardened wrist and ankle bones. The remaining bones in the limbs are typically unaffected.

Genital and urinary tract abnormalities can differ significantly among those affected. A common feature is defects in the ureters (tubes connecting kidneys to the bladder) or the urethra (tube carrying urine from the bladder). This can lead to recurring urinary tract infections and urinary incontinence. Approximately 50% of affected males present with hypospadias, a condition where the urethra opens on the underside of the penis.

Individuals with hand-foot-genital syndrome are generally fertile. However, some affected females may experience uterine developmental issues that increase the risk of pregnancy loss, premature birth, or stillbirth later in life.

Inheritance:

The inheritance pattern for this condition is autosomal dominant. This means that only one copy of the mutated gene is needed in each cell to cause the syndrome.