SNP Shot: Genomic Insights

Genitopatellar syndrome is a rare disorder defined by a combination of features: genital anomalies, absent or poorly developed kneecaps (patellae), intellectual disability, and various other physical abnormalities.

In males, genital issues typically involve undescended testicles (cryptorchidism) and an underdeveloped scrotum. Females may present with an enlarged clitoris (clitoromegaly) and smaller labia.

The most frequent skeletal problem in genitopatellar syndrome is missing or underdeveloped kneecaps. Additional skeletal issues can include joint contractures (particularly in the hips and knees) and clubfoot. Abnormalities in the spine, ribs, collarbone (clavicle), and pelvis have also been observed.

Developmental delays and intellectual disability, often significant, are characteristic of genitopatellar syndrome. Affected individuals may also exhibit an abnormally small head size (microcephaly) and structural brain defects, such as agenesis of the corpus callosum (underdevelopment or absence of the tissue connecting the brain's hemispheres).

Individuals with genitopatellar syndrome may have recognizable facial characteristics including prominent cheeks and eyes, a nose with a rounded tip or wide bridge, a small or protruding chin (micrognathia or prognathism, respectively), and narrowing of the head at the temples. Many infants display weak muscle tone (hypotonia), leading to problems with breathing and feeding. Heart, kidney, and dental abnormalities can also occur.

Inheritance:

Genitopatellar syndrome follows an autosomal dominant inheritance pattern. This means that a single copy of the mutated gene is enough to cause the condition. All documented cases have arisen from spontaneous new mutations in the gene, occurring in individuals without a family history of the syndrome.