Diastrophic Dysplasia

Alternative Names

  • DTD
  • DD
  • DIiastrophic Dysplasia, Broad Bone-Platyspondylic Variant
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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

222600

Mode of Inheritance

Autosomal recessive

Gene Map Locus

5q32

Description

Diastrophic Dysplasia is a rare autosomal recessive chondrodysplasia, characterized by rhizomelic short limbs, rigid clubfeet, dislocation of the major joints, and progressive scoliosis. 

The condiiton is caused by mutation in the SLC26A2 gene

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
222600.1.1LebanonFemaleYesYes Rhizomelia; Platyspondyly; Limited elb...NM_000112.3:c.1361A>CHomozygousAutosomal, RecessiveMégarbané et al., 1999; Mégarbané et al. 2002e Similarly affected s...
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