Geleophysic dysplasia (GPHYSD) is a rare condition belonging to the acromelic dysplasia disorders. It may be associated with early death.
Phenotypic features:
(1) proportionate short stature
(2) very short hands and feet
(3) progressive joint limitation with contractures
(4) thickened skin
(5) progressive thickening of cardiac valves
(6) normal intelligence
(7) distinctive face (round face, small nose with anteverted nostrisl, broad nasal bridge, thin upper lip with flat philtrum)
(8) variable hepatomegaly
(9) variable tracheal stenosis
(10) variable recurrent middle ear and respiratory infections
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Type
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Inheritance
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Chromosome
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Gene
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Type 1
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autosomal recessive
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9q34.2
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ADAMTSL2
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Type 2
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autosomal dominant
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15q21.1
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FBN1
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Tissue biopsy may show lysosomal-like PAS-positive vacuoles.
