autosomal recessive spondylocostal dysostosis

Autosomal recessive spondylocostal dysostosis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

The condition is associated with vertebral and rib segmentation defects, leading to a short neck, limited mobility, winged scapulae, a short trunk, and short stature. The inheritance pattern is autosomal recessive, but specific genes associated with the condition are not documented. There are currently no orphan drug designations under investigation.

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of the autosomal recessive inheritance. Connecting with rare disease registries such as NORD or Orphanet may provide additional resources and support. Finding specialists experienced with spondylocostal dysostosis can also be beneficial.