spondylocostal dysostosis 1—autosomal recessive

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spondylocostal dysostosis 1—autosomal recessive2016-11-28T05:48:59+00:00

spondylocostal dysostosis 1—autosomal recessive

GENETICS, ORTHOPAEDICS

Definition An autosomal recessive condition (OMIM:277300) of variable severity, characterised by skeletal malformations in the form of:

• Vertebral defects–e.g., fusion of vertebrae and hemivertebrae

• Rib segmentation defects–e.g., fusion of ribs, and other rib malformations

• Chest and spine deformities–e.g., severe scoliosis, kyphoscoliosis, and lordosis, are a natural consequence of the disorder and leads to a dwarf-like appearance.

As the thorax is small, infants often have respiratory insufficiency and repeated lung infections with life-threatening complications in the first year of life.

Molecular pathology Defects of DLL3  cause spondylocostal dysostosis 1—autosomal recessive. 

References http://www.uniprot.org/uniprot/Q9NYJ7

http://www.omim.org/entry/277300

 

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