Orphanet: Pelvic dysplasia arthrogryposis of lower limbs syndrome

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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: C2930869
MeSH: C535292 C535548
GARD: 4269
MedDRA: -

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Pelvic dysplasia-arthrogryposis of lower limbs syndrome

ORPHA:2840

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

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