Spondylometaphyseal Dysplasia With Corneal Dystrophy

Alternative Names

  • SMDCD

Associated Genes

Phospholipase C, Beta-3
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

618961

Gene Map Locus

11q13.1

Description

Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) is characterized by short stature due to short proximal and distal long bones. Affected individuals also exhibit narrow thorax with pulmonary hypoplasia and respiratory failure, as well as corneal dystrophy. Severe developmental delay has been observed. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
618961.1.1United Arab EmiratesMaleYesYes Spondylometaphyseal dysplasia; Narrow ch... NM_000932.4:c.2632G>THomozygousAutosomal, RecessiveBen-Salem et al. 2018
618961.1.2United Arab EmiratesMaleYesYes Spondylometaphyseal dysplasia; Narrow ch... NM_000932.4:c.2632G>THomozygousAutosomal, RecessiveBen-Salem et al. 2018 Cousin of 618961.1.1
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