Spondylospinal thoracic dysostosis

Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life.

Also known as: spondylospinal thoracic dysostosis

0 clinical trials for this condition and its sub-types, 0 tagged with Spondylospinal thoracic dysostosis itself.