Pelvic dysplasia-arthrogryposis of lower limbs syndrome

Orpha code: 2840OMIM code: 602484

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Ray-Peterson-Scott syndrome
Zespół Ray'a, Petersona i Scotta
Kod ORPHA
2840
Kod OMIM
602484
Kod ICD10
Q68.8
Kod ICD11
-

No additional description.

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