Pelvic dysplasia-arthrogryposis of lower limbs syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 June 2024

Newly diagnosed with
Pelvic dysplasia-arthrogryposis of lower limbs syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.