Cutis Laxa, Autosomal Recessive, Type IIIA

Alternative Names

  • ARCL3A
  • De Barsy Syndrome A
  • Cutis Laxa, Corneal Clouding, and Mental Retardation
  • Progeroid Syndrome of De Barsy
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

219150

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q24.1

Description

Cutis laxa is a group of disorders affecting the connective tissue of the body. It results in loose, sagging skin and a prematurely aged appearance. Patients with ALDH18A1-related cutis laxa may also suffer from skeletal, opthalmological and neurological abnormalities. 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
219150.1.1LebanonMaleYesNo Generalized hypotonia ; Redundant skin...NM_002860.4:c.2246G>A, NM_002860.4:c.2294G>AHeterozygousAutosomal, RecessiveHandley et al, 2014 Proband
219150.1.2LebanonMaleYesNo Generalized hypotonia ; Hyperreflexia ...NM_002860.4:c.2246G>A, NM_002860.4:c.2294G>AHeterozygousAutosomal, RecessiveHandley et al, 2014 Brother of 219150.1....
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