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Fetal akinesia deformation sequence

Disease definition

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

ORPHA:994

  • Synonym(s):
    • Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
    • FADS
    • Pena-Shokeir syndrome type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 208150  300073
  • UMLS: C1276035
  • MeSH: -
  • GARD: 791  9634
  • MedDRA: -

Detailed information

Professionals

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