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Arthrogryposis-anterior horn cell disease syndrome

Disease definition

A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as hypotonia and respiratory insufficiency. Some patients may survive into childhood and show developmental delay, markedly decreased muscle bulk, dystonic and involuntary movements, ataxia, and poor speech.

ORPHA:53696

Classification level: Disorder
  • Synonym(s):
    • AAHD
    • Vuopala disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal
  • ICD-10: Q68.8
  • OMIM: 611890
  • UMLS: C2678471
  • MeSH: -
  • GARD: -
  • MedDRA: -
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