Geleophysic dysplasia

Geleophysic dysplasia is an inherited condition that is characterized by short stature, thickened skin, joint abnormalities, distinctive facial features, and heart (cardiac) problems. The features and the severity of geleophysic dysplasia can vary among affected individuals.

People with geleophysic dysplasia have short stature with especially small hands and feet. A thickening of the skin combined with joint deformities (contractures) can limit movement in the joints, especially in the fingers and wrists. Contractures in the legs and hips may cause people with geleophysic dysplasia to walk on their toes. The joint abnormalities seen in affected individuals typically worsen over time.

Geleophysic dysplasia gets its name from the Greek words for happy ("gelios") and nature ("physis") and is derived from the good-natured facial appearance seen in many affected individuals. The distinctive facial features that are associated with this condition include a round face with full cheeks, a small nose with upturned nostrils, a broad nasal bridge, a thin upper lip, upturned corners of the mouth, and a flattened area between the upper lip and the nose (philtrum).

People with geleophysic dysplasia often have cardiac problems. Abnormalities of the valves that control the flow of blood through the heart (cardiac valves) are especially common. In affected individuals, the cardiac valves may thicken, which can block blood flow and increase pressure in the heart. These cardiac valve problems can worsen over time. In some cases, people with geleophysic dysplasia have a narrowing of the artery from the heart to the lungs (pulmonary stenosis) or a hole between the two upper chambers of the heart (atrial septal defect).

Approximately one third of individuals with geleophysic dysplasia have an abnormality of the windpipe (trachea) or voice box (larynx) that can cause serious breathing problems. These airway problems can also worsen over time. Some affected individuals have recurrent respiratory infections. About one third of people with geleophysic dysplasia do not survive past early childhood due to serious cardiac or respiratory problems.

Other features of geleophysic dysplasia can include an enlarged liver (hepatomegaly) and recurrent ear infections, which can lead to hearing loss in some affected individuals.