Spondylocostal Dysostosis 3, Autosomal Recessive

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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

609813

Mode of Inheritance

Autosomal Recessive

Gene Map Locus

7p22.3

Description

Autosomal recessive spondylocostal dysostosis type 3 is a member of the heterogeneous group of disorders termed the spondylocostal dysostoses. These are characterized by multiple vertebral segmentation defects and rib anomalies. Radiologically, the disease is characterized by vertebral malformations including hemivetebra, block vertebra, fused vertebra and spina bifida and deformities of the ribs that include absent ribs and bifid or fused ribs, which give the typical "crab like", or "fan like" appearance. SCDO3 is thought to exhibit a more severe phenotype relative to SCDO1. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
609813.1.1LebanonNo Arachnodactyly; Camptodactyly of fin...NM_001040167.2:c.564C>AHomozygousAutosomal, RecessiveSparrow et al, 2006
609813.2Saudi ArabiaFemaleYesYes Atlantoaxial abnormality; Abnormality of...NM_001040167.2:c.761C>THomozygousAutosomal, RecessiveMaddirevula et al. 2018
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