Geleophysic Dysplasia 1

Alternative Names

  • GPHYSD1

Associated Genes

ADAMTS-Like Protein 2
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

231050

Mode of Inheritance

Autosomal recessive form linked to ADAMTSL2

Gene Map Locus

9q34.2

Description

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. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
231050.1.1United Arab Emirates; ...FemaleNoYes Short stature; Tip-toe gait; Upslanted p...NM_014694.3:c.938T>CHomozygousAutosomal, RecessiveBen-Salem et al. 2013 The patient belongs ...
231050.5.1Saudi ArabiaMaleYesYes Aortic valve stenosis; Neonatal inspirat...NM_001145320.1:c.338G>THomozygousAutosomal, RecessiveMaddirevula et al. 2018 Novel variant
231050.5.2Saudi ArabiaMaleYesYes Aortic valve stenosis; Neonatal inspirat...NM_001145320.1:c.338G>THomozygousAutosomal, RecessiveMaddirevula et al. 2018 Brother of 231050.5....
231050.6Saudi ArabiaFemaleYes Short stature; Bilateral ptosis; Deep pa...NM_001145320.1:c.215G>AHomozygousAutosomal, RecessiveMaddirevula et al. 2018
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