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hyperostosis cranialis interna - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperostosis cranialis interna

MONDO:0007765

Also known as:hyperostosis cranalis internahyperostosis cranialis interna (disease)HCIN

Overview

GeneticsAutosomal dominant · SLC39A14 (chr 8)

OnsetADULT

ResearchLimited published research (1 article)

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 always present findings: Calvarial hyperostosis, Inner ear hearing loss (sensorineural hearing impairment), and Osteosclerosis of the base of the skull; and common findings: Facial palsy, Abnormal vestibular function, Anosmia, and Headache. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	3	Abnormal vestibular function, Tinnitus, Inner ear hearing loss (sensorineural hearing impairment)

Genetic Landscape

SLC39A14 function has not been fully characterized.

Hyperostosis cranialis interna is associated with mutations in the SLC39A14 gene on chromosome 8.

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

Suggestive Findings

SLC39A14 deficiency should be suspected in probands with typical clinical, neuroimaging, and laboratory findings : Clinical findings. Infantile or early-childhood onset of the following:

Delay in acquisition of developmental motor milestones or loss of developmental motor milestones
Progressive pharmaco-resistant dystonia

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 hyperostosis cranialis interna. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with SLC39A14 deficiency, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with SLC39A14 Deficiency

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 following evaluations are recommended.

Table 4.

Recommended Surveillance for Individuals with SLC39A14 Deficiency

System/Concern | Evaluation | Frequency

Feeding

| • Measurement of growth parameters

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 hyperostosis cranialis interna.

1 publication has been identified in PubMed for hyperostosis cranialis interna. Research spans Case Report / Case Series (100%).

Recent Publications

Alsaleh AS (2025). [PMID: 40091967](https://pubmed.ncbi.nlm.nih.gov/40091967/). *Cureus*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:144755

Orphanet

European rare disease database

Orphanet:443098

GARD

Genetic and Rare Diseases Info Center

GARD:17753

Questions for Your Care Team

→Should I pursue genetic testing for SLC39A14, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

GeneReviews

Differential Diagnosis

Table 2. Hereditary Disorders of Interest in the Differential Diagnosis of SLC39A14 Deficiency

Gene	Differential Disorder	MOI	Features of Differential Disorder
SLC30A10	Hypermanganesemia with dystonia 1 (HMNDYT1)	AR	Dystonia-parkinsonism; hypermanganesemia; brain MRI features consistent w/manganese deposition
ATP13A2	Kufor-Rakeb syndrome	AR	Parkinsonism-dystonia; T2-weighted hypointensity of the globus pallidus on brain MRI
Wilson disease	AR	Parkinsonism-dystonia	Liver disease, psychiatric symptoms, low serum ceruloplasmin high non-ceruloplasmin-bound serum copper; no Mn deposition on brain MRI Inherited forms of dystonia (See Dystonia Overview.) KMT2B
KMT2B-related dystonia	AD	Early-onset generalized dystonia	No features consistent w/Mn deposition on brain MRI; absence of hypermanganesemia MECR
MECR-related neurologic disorder	AR	Optic atrophy; no features consistent w/Mn deposition on brain MRI TOR1A	—
DYT1 early-onset isolated dystonia	AD	No features consistent w/Mn deposition on brain MRI; absence of hypermanganesemia GCH1	—
GTPCH1-deficient DRD	AD	Parkinsonism-dystonia	No features consistent w/Mn deposition on brain MRI SLC6A3

Source: GeneReviews — "SLC39A14 Deficiency"

Kisho

hyperostosis cranialis interna

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Feeding

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Trials

Neurologic

hyperostosis cranialis interna

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Feeding

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Trials

Neurologic