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delayed membranous cranial ossification - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

delayed membranous cranial ossification

MONDO:0007971

Also known as:Gonzales-del Angel syndromemembranous cranial ossification, delayed

Overview

Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.

GeneticsAutosomal dominant

Clinical Presentation

Features include: Downslanted palpebral fissures, Hypertelorism, High forehead, and Frontal bossing and 2 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Depressed nasal bridge

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Diagnosis

Biomarker and diagnostic research for delayed membranous cranial ossification 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 delayed membranous cranial ossification.

100 publications have been identified in PubMed for delayed membranous cranial ossification. Research spans Basic Science / Preclinical (24%), Epidemiology / Natural History (22%), and Clinical Trial Publication (16%).

Research Type	Count	% of Total
Laboratory research	23	24%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:155980

Orphanet

European rare disease database

Orphanet:3034

GARD

Genetic and Rare Diseases Info Center

GARD:1727

Questions for Your Care Team

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delayed membranous cranial ossification

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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