SNP Shot: Genomic Insights

Geleophysic dysplasia is a genetic disorder impacting various bodily systems, notably the bones, joints, heart, and skin.

Individuals with geleophysic dysplasia typically exhibit short stature and disproportionately small hands and feet. Thickened skin and joint contractures, restricting movement, are also common. Range of motion is often limited in the fingers, toes, wrists, and elbows. Leg and hip contractures frequently lead to toe-walking.

The condition's name, derived from Greek words meaning "happy nature," alludes to the characteristically pleasant facial expressions often observed. These distinctive facial features include a round face with plump cheeks, a short nose with upturned nostrils, a wide nasal bridge, a thin upper lip, upturned corners of the mouth, and a smooth philtrum (the area between the upper lip and nose).

Cardiac issues, particularly valve abnormalities, are also hallmarks of geleophysic dysplasia. The heart valves, responsible for regulating blood flow, thicken in affected individuals. This thickening obstructs blood flow and elevates blood pressure within the heart. Additional heart problems, such as pulmonary stenosis (narrowing of the artery from the heart to the lungs) and atrial septal defect (a hole between the heart's upper chambers), have also been documented.

Further features of geleophysic dysplasia may include an enlarged liver (hepatomegaly) and frequent respiratory and ear infections. In severe instances, tracheal stenosis (windpipe narrowing) can cause critical breathing difficulties. Due to these cardiac and respiratory complications, geleophysic dysplasia can be fatal in childhood, although some individuals survive into adulthood.

Inheritance:

Geleophysic dysplasia follows an autosomal recessive inheritance pattern. This means that both copies of the relevant gene within an individual's cells must possess mutations for the condition to manifest. Parents of individuals with autosomal recessive disorders each carry one copy of the mutated gene but usually do not exhibit symptoms themselves.