Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Synonyms: Ray-Peterson-Scott syndrome
Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare genetic dysostosis syndrome characterized by intrauterine growth restriction short stature (with short lower segment) lower limb joint contractures and muscular hypotrophy narrow small pelvis lumbar hyperlordosis with scoliosis and foot deformity (short overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs and normal skull and upper limbs.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Pelvic dysplasia-arthrogryposis of lower limbs syndrome?
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