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GTR Home > Conditions/Phenotypes > Spondylocostal dysostosis 2, autosomal recessive

Spondylocostal dysostosis 2, autosomal recessive

Synonyms
MESP2-Related Spondylocostal Dysostosis, Autosomal Recessive; Spondylocostal dysostosis type 2; Spondylothoracic Dysostosis

Summary

Excerpted from the GeneReview: Spondylocostal Dysostosis, Autosomal Recessive
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs. Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development. In severely affected individuals with restricted pulmonary capacity, there is a possibility that pulmonary hypertension may eventually impact cardiac function. Males with SCDO appear to be at increased risk for inguinal hernia.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Peter D Turnpenny
Melissa Sloman
Sally Dunwoodie
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Available tests

39 tests are in the database for this condition.

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Clinical tests (39 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SCDO2, bHLHc6, MESP2
    Summary: mesoderm posterior bHLH transcription factor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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