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craniometaphyseal dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniometaphyseal dysplasia

MONDO:0015465

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Overview

Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

Clinical Trials1 registered · 1 recruiting

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 very common findings: Hypertelorism, Wide nasal bridge, Abnormal metaphysis morphology, and Craniofacial hyperostosis and others; and common findings: Telecanthus and Skeletal dysplasia. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Conductive hearing impairment, Inner ear hearing loss (sensorineural hearing impairment)

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Formal diagnostic criteria for autosomal dominant craniometaphyseal dysplasia (AD-CMD) have not been established.

Suggestive Findings

AD-CMD should be suspected in individuals with the following clinical, radiographic, and laboratory features and family history.

Clinical features

Obstruction of the nasal sinuses

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for craniometaphyseal dysplasia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for autosomal dominant craniometaphyseal dysplasia (AD-CMD) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with AD-CMD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 6.

Autosomal Dominant Craniometaphyseal Dysplasia: Recommended Surveillance

System/Concern | Evaluation | Frequency

Feeding respiratory issues in newborns infants

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

13 publications have been identified in PubMed for craniometaphyseal dysplasia. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (31%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Patient case studies	5	38%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 8:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1522

GARD

Genetic and Rare Diseases Info Center

GARD:15013

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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GeneReviews

Differential Diagnosis

Table 3. Genetic Disorders of Interest in the Differential Diagnosis of Autosomal Dominant Craniometaphyseal Dysplasia

Gene	Disorder	MOI	Features of Disorder
Osteopathia striata w/cranial sclerosis	XL	Osteosclerosis of cranial facial bones	Short stature; Delayed closure of anterior fontanelle1; Micrognathia; Linear striations in long bones of females
FLNA	FLNA-related frontometaphyseal dysplasia (See FLNA-Related Otopalatodigital Spectrum Disorders.)	XL	Frontal bone hyperostosis metaphyseal dysplasia (similar to those seen in Pyle disease)
GJA1	GJA1-related craniometaphyseal dysplasia (AR-CMD) (OMIM 218400)	AR	Hyperostosis of cranial base cranial vault w/metaphyseal flaring
LRP5	LRP5-related osteopetrosis (OMIM 607634)	AD	Cranial sclerosis
SFRP4	SFRP4-related Pyle disease (OMIM 265900)	AR	Metaphyseal dysplasia
SOST	Craniodiaphyseal dysplasia (CDD) (OMIM 218300)	AD	Progressive overgrowth of craniofacial bones w/deafness, facial palsy, visual disturbance due to nerve entrapment; Choanal stenosis is a clinically significant complication.; Radiologically, cranial facial bones are hyperostotic.
Cranial facial thickening is generally more severe. SOST-related sclerosteosis (See SOST-Related Sclerosing Bone Dysplasias.)	AR	Progressive skeletal overgrowth in skull mandible; Hyperostosis of skull leads to narrowing of foramina entrapment of 7th cranial nerve (causing facial palsy) w/other, less common nerve entrapment syndromes.; Hyperostosis of calvarium decreases intracranial volume.	Sclerosis in spine pelvis; 2-3 finger syndactyly; Nail dysplasia; No metaphyseal flaring
Tall stature SOST-related endosteal hyperostosis, van Buchem type (van Buchem disease) (See SOST-Related Sclerosing Bone Dysplasias.)	AR	Cranial hyperostosis; Cranial nerve compression causing facial palsy loss of vision or hearing.	Osteosclerosis includes clavicles ribs; Hyperphosphatasemia
TGFB1	Camurati-Engelmann disease (progressive diaphyseal dysplasia)	AD	Skull hyperostosis results in narrowing of foramina, causing facial palsy deafness.

Source: GeneReviews — "Autosomal Dominant Craniometaphyseal Dysplasia"

Kisho

craniometaphyseal dysplasia

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Feeding respiratory issues in newborns infants

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Skeletal hyperostosis

Speech

Therapies Under Investigation

Clinical Trials

Narrowing cranial foramina, incl foramen magnum

Hearing loss

Vision loss

Dental development

Recent Publications

craniometaphyseal dysplasia

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Feeding respiratory issues in newborns infants

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Skeletal hyperostosis

Speech

Therapies Under Investigation

Clinical Trials

Narrowing cranial foramina, incl foramen magnum

Hearing loss

Vision loss

Dental development

Recent Publications