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Arthrogryposis-like hand anomaly

MedGen UID:
Concept ID:
Congenital Abnormality
HPO: HP:0005612

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Arthrogryposis-like hand anomaly

Conditions with this feature

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness (summary by Bamshad et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Spinal muscular atrophy, distal, autosomal recessive, 6
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal recessive distal hereditary motor neuronopathy-6 (HMNR6) is a neuromuscular disorder characterized by onset of distal muscle weakness in early infancy. Affected individuals often present at birth with distal joint contractures or foot deformities and show delayed motor development, often with inability to walk or frequent falls. Hypo- or hyperreflexia may be observed; limb muscle atrophy may also be present. Patients often show respiratory distress or diaphragmatic palsy. Electrophysiologic studies are consistent with a peripheral motor neuropathy without sensory involvement (Maroofian et al., 2019). For a discussion of genetic heterogeneity of autosomal recessive distal HMN, see HMNR1 (604320).

Recent clinical studies


Albokhari D, Alharbi O, Blesson A, Jain M
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006319. PMID: 38199782Free PMC Article

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