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Holoprosencephaly-hypokinesia-congenital contractures syndrome

Disease definition

Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested.

ORPHA:2570

  • Synonym(s):
    • Holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome
    • Morse-Rawnsley-Sargent syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal
  • ICD-10: Q04.2
  • OMIM: 306990
  • UMLS: C1844016
  • MeSH: -
  • GARD: 3788
  • MedDRA: -

Additional information

Further information on this disease

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