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Spondylospinal thoracic dysostosis

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0011148:  Spondylospinal thoracic dysostosis
GARD:0010571: 
MESH:C566622: 
UMLS:C1866184: