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Pelvic dysplasia-arthrogryposis of lower limbs syndrome

Disease definition

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.

ORPHA:2840

Classification level: Disorder
  • Synonym(s):
    • Ray-Peterson-Scott syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q68.8
  • OMIM: 602484
  • UMLS: C1865294  C2930869
  • MeSH: C535292  C535548
  • GARD: 4269
  • MedDRA: -
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