Question: What are the symptoms of Spondylothoracic dysostosis ?
Answer: What are the signs and symptoms of spondylothoracic dysostosis? Signs and symptoms of spondylothoracic dysostosis, include spine and vertebral abnormalities which result in a shortened spine, neck, and trunk, as well as rib anomalies including fused ribs which in combination with the spine anomalies result in a "crab-like" appearance to the rib cage. The shortened spine and rib cage anomalies can cause serious breathing problems and recurring lung infections. These complications result in a 32% death rate in early childhood. Other complications of spondylothoracic dysostosis, include shortened stature (due to the spine and vertebral defects) and limited neck motion. Symptom and symptom severity may vary from patient to patient, however symptoms tend to be the worse for children who carry two "E230X" mutations in the MESP2 gene. Most patients with spondylothoracic dysostosis have normal intelligence and neurological problems are infrequent.
Source: GARD