Clinical Guidance
Geleophysic dysplasia is a progressive disorder resembling a lysosomal storage disorder, involving bones and joints, cardiac valves, and skin. To date about 100 individuals have been reported: 51 affected individuals in two large cohorts and 55 in case reports [, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ]. Table 2. Geleophysic Dysplasia: Frequency of Select Features
Feature | % of Persons w/Feature | Comment |
|---|
Skeletal | Characteristic skeletal manifestations | 100% |
Additional orthopedic manifestations | 30%-40% | Osteochondritis, carpal tunnel syndrome |
Cardiac manifestations | 70% | Valvulopathy (progressive in half of affected persons); atrioventricular septal defect in 20% of individuals |
Pulmonary hypertension | 40% | Respiratory/ |
ENT | Respiratory manifestations | 50% |
Multilevel airway obstruction | 30% | Airway stenosis /or malacia |
Hearing loss | 40% | Conductive hearing loss |
Ophthalmologic manifestations | 45% | Refractive errors, papillary edema |
Hepatomegaly | 40% | Related to right heart valve defect in some persons Skeletal manifestations. About 40% of individuals present with a birth length below the 5th percentile; a skeletal disorder is usually suspected in the first months of life because of short stature and short hands and feet. |
Source: GeneReviews — "Geleophysic Dysplasia"
