Geleophysic Dysplasia 1

Alternative Names

  • GPHYSD1
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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 Autosomal dominant form linked to FBN1

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

View Map
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 ...
231050.2Lebanon Short stature... NM_000138.4:c.5157C>GHeterozygousAutosomal, RecessiveLe Goff et al. 2011 de novo mutation
231050.3Algeria Short stature; Mitral stenosis; Tricuspi... NM_000138.4:c.5117G>AHeterozygousAutosomal, RecessiveLe Goff et al. 2011 de novo mutation
231050.4Iraq Short stature; Hepatomegaly... NM_000138.4:c.5182G>AHeterozygousAutosomal, RecessiveLe Goff et al. 2011 de novo mutation
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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