Pelvic dysplasia-arthrogryposis of lower limbs syndrome

Orpha code: 2840OMIM code: 602484

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.

Disease data
Classification

Malformation syndrome

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

No additional description.

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