Spondylocostal dysostosis 6, 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
13 tests are in the database for this condition.
Clinical tests (13 available)
Clinical features
Help- Abnormality of the musculoskeletal system
- Butterfly vertebrae
Butterfly vertebrae
- MedGen UID: 1744309
- Concept ID: C5438458
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Cervical kyphosis
Cervical kyphosis
- MedGen UID: 107898
- Concept ID: C0575170
- Finding: Finding
Abnormality of the musculoskeletal system
- Hemivertebrae
Hemivertebrae
- MedGen UID: 82720
- Concept ID: C0265677
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Spinal canal stenosis
Spinal canal stenosis
- MedGen UID: 396107
- Concept ID: C1861329
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Butterfly vertebrae
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.