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Congenital foot contractures

MedGen UID:
Concept ID:
Congenital Abnormality
HPO: HP:0005745

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital foot contractures

Conditions with this feature

Wieacker-Wolff syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Wieacker-Wolff syndrome (WRWF) is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia), which results in arthrogryposis multiplex congenita (AMC) apparent at birth. Affected boys are born with severe contractures, show delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and foot deformities. Additional features include global developmental delay with poor or absent speech and impaired intellectual development, feeding difficulties and poor growth, hypotonia, hypogenitalism, and spasticity. Carrier females may be unaffected or have mild features of the disorder (summary by Hirata et al., 2013 and Frints et al., 2019).
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
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.

Professional guidelines


Balasankar G, Luximon A, Al-Jumaily A
J Pediatr Rehabil Med 2016 Nov 30;9(4):257-264. doi: 10.3233/PRM-160394. PMID: 27935562
Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ
Am J Med Genet A 2014 Nov;164A(11):2808-13. Epub 2014 Sep 25 doi: 10.1002/ajmg.a.36762. PMID: 25256237
Lampasi M, Antonioli D, Donzelli O
Musculoskelet Surg 2012 Dec;96(3):161-9. Epub 2012 Aug 9 doi: 10.1007/s12306-012-0218-z. PMID: 22875688

Recent clinical studies


Rudnik-Schöneborn S, Deden F, Eggermann K, Eggermann T, Wieczorek D, Sellhaus B, Yamoah A, Goswami A, Claeys KG, Weis J, Zerres K
Muscle Nerve 2016 Sep;54(3):496-500. Epub 2016 Jul 9 doi: 10.1002/mus.25114. PMID: 26998597

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