Table 2.

Geleophysic Dysplasia: Frequency of Select Features

Feature% of Persons w/FeatureComment
Skeletal Characteristic skeletal manifestations100%Short stature, short hands & feet, joint limitations
Additional orthopedic manifestations30%-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 manifestations50%Asthma, restrictive lung disease
Multilevel airway obstruction30%Airway stenosis &/or malacia
Hearing loss40%Conductive hearing loss
Ophthalmologic manifestations 45%Refractive errors, papillary edema
Hepatomegaly 40%Related to right heart valve defect in some persons

From: Geleophysic Dysplasia

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