Pelvic dysplasia arthrogryposis of lower limbs
Alternate names[edit | edit source]
Pelvic hypoplasia with arthrogryposis of lower limbs; Pelvic hypoplasia with lower limb arthrogryposis
Definition[edit | edit source]
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.
NIH genetic and rare disease info[edit source]
Pelvic dysplasia arthrogryposis of lower limbs is a rare disease.
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