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Unilateral wrist flexion contracture

MedGen UID:
892557
Concept ID:
C4022898
Finding
Synonym: Unilateral wrist contracture
 
HPO: HP:0012454

Definition

A chronic loss of wrist joint motion on one side only. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUnilateral wrist flexion contracture

Conditions with this feature

Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
MedGen UID:
899982
Concept ID:
C4225295
Disease or Syndrome
PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.

Recent clinical studies

Diagnosis

Kumakura A, Takahara T, Asada J, Matsukawa Y, Hata D
Pediatr Neurol 2008 Jan;38(1):47-9. doi: 10.1016/j.pediatrneurol.2007.08.015. PMID: 18054693

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