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Holoprosencephaly-hypokinesia-congenital contractures syndrome

Synonym(s) Holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome
Morse-Rawnsley-Sargent syndrome
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Antenatal
  • Q04.2
MeSH -
MedDRA -


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.

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