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prominent glabella-microcephaly-hypogenitalism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

prominent glabella-microcephaly-hypogenitalism syndrome

MONDO:0009543

Also known as:MacDermot-Winter syndromeMac Dermot Winter syndromeprominent glabella microcephaly hypogenitalism

Overview

Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.

GeneticsAutosomal recessive

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: Highly arched eyebrow, Microcephaly, Prominent glabella, and Seizure and 11 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Seizure, Global developmental delay, Enlarged brain ventricles (ventriculomegaly)

Diagnosis

Biomarker and diagnostic research for prominent glabella-microcephaly-hypogenitalism syndrome has been reported in the published literature.

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 prominent glabella-microcephaly-hypogenitalism syndrome.

299 publications have been identified in PubMed for prominent glabella-microcephaly-hypogenitalism syndrome. Kisho has analyzed 61 by research type. Research spans Review / Meta-Analysis (54%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Research summaries	33	54%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:247990

Orphanet

European rare disease database

Orphanet:2083

GARD

Genetic and Rare Diseases Info Center

GARD:144

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

prominent glabella-microcephaly-hypogenitalism syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

prominent glabella-microcephaly-hypogenitalism syndrome

Overview

Clinical Presentation

Diagnosis

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