Geleophysic Dwarfism

Common Name(s)

Geleophysic Dwarfism, Geleophysic dysplasia

Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues (summary by {3:Le Goff et al., 2011}). Genetic Heterogeneity of Geleophysic Dysplasia Geleophysic dysplasia-2 (GPHYSD2; {614185}) is an autosomal dominant form of the disorder caused by heterozygous mutation in the FBN1 gene ({134797}) on chromosome 15q21.1. Acromicric dysplasia ({102370}) and the autosomal dominant form of Weill-Marchesani syndrome ({608328}) are allelic to geleophysic dysplasia-2 and share overlapping skeletal and joint features.
 

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Condition Specific Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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