Spondylocostal Dysostosis 2, Autosomal Recessive

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OMIM 57 608681 MedGen 42 C1837549 MeSH 44 D004413

SNOMED-CT via HPO 69 258211005 95427009 205455005 UMLS 73 C1837549

UniProtKB/Swiss-Prot : ⁷⁵ Spondylocostal dysostosis 2, autosomal recessive: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.

MalaCards based summary : Spondylocostal Dysostosis 2, Autosomal Recessive, also known as spondylocostal dysostosis, autosomal recessive 2, is related to spondylocostal dysostosis 2 and spondylocostal dysostosis, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 2, Autosomal Recessive is MESP2 (Mesoderm Posterior BHLH Transcription Factor 2). Affiliated tissues include testes, and related phenotypes are short neck and rib fusion

OMIM : ⁵⁷ Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 (277300). (608681)

Clinical features from OMIM:

608681

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