Spondylocostal dysostosis 1, autosomal recessive
- Synonyms
- DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive
Summary
Excerpted from the GeneReview: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
- view full author information
Available tests
22 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (22 available)
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