Holoprosencephaly-hypokinesia-congenital contractures syndrome
Holoprosencephaly-hypokinesia-congenital contractures syndrome
Definition
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.
Also known as holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome, Morse-Rawnsley-Sargent syndrome — per MONDO