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GTR Home > Conditions/Phenotypes > Holoprosencephaly-hypokinesia-congenital contractures syndrome

Holoprosencephaly-hypokinesia-congenital contractures syndrome

Synonyms
Holoprosencephaly with fetal akinesia/hypokinesia sequence

Summary

X-linked microhydranencephaly is a male-lethal disorder characterized by intrauterine growth retardation, extreme microcephaly, and lack of fetal movement on prenatal ultrasound, with death in utero or stillbirth. Autopsy shows limb contractures with talipes equinovarus and hypoplastic lungs and kidneys. Brain findings are consistent with severe holoprosencephaly or near-anencephaly. Obligate carrier females may show a milder phenotype of short stature and microcephaly (Hockey et al., 1988; Carroll et al., 2017). An autosomal recessive form of microhydranencephaly (MHAC; 605013) is caused by mutation in the NDE1 gene (609449). [from OMIM]

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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