Conditions / Genetic
spondylocostal dysostosis 1
info · Genetic
A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2.
Signs and symptoms
- Short stature
- Rib fusion
- Protuberant abdomen
- Kyphoscoliosis
- Short neck
- Vertebral segmentation defect
- Vertebral fusion
- Back pain
- Hemivertebrae
- Severe short stature
Also known as: SCDO1; autosomal recessive spondylocostal dysostosis 1