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holoprosencephaly-hypokinesia-congenital contractures syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly-hypokinesia-congenital contractures syndrome

MONDO:0010610

Also known as:Morse-Rawnsley-Sargent syndromeholoprosencephaly-fetal akinesia/hypokinesia sequence syndromeholoprosencephaly with fetal akinesia/hypokinesia sequence

Overview

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.

GeneticsX-linked

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Microcephaly, Holoprosencephaly, Multiple joint contractures, and Decreased fetal movement and 2 more.

Organ System	Phenotype Count	Example Features
Pregnancy and birth	2	Decreased fetal movement, Fetal akinesia sequence
Head and neck

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for holoprosencephaly-hypokinesia-congenital contractures syndrome.

300 publications have been identified in PubMed for holoprosencephaly-hypokinesia-congenital contractures syndrome. Kisho has analyzed 49 by research type. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (14%), and Case Report / Case Series (6%).

Research Type	Count	% of Total
Research summaries	35	71%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:306990

Orphanet

European rare disease database

Orphanet:2570

GARD

Genetic and Rare Diseases Info Center

GARD:3788

Questions for Your Care Team

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holoprosencephaly-hypokinesia-congenital contractures syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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Recent Publications

holoprosencephaly-hypokinesia-congenital contractures syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications