Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

neonatal osteosclerotic dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neonatal osteosclerotic dysplasia

MONDO:0019702

Overview

OnsetCONGENITAL, INFANTILE

ResearchLimited published research (4 articles)

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.

No HPO annotations are available for this condition.

Age of onset: at birth, infancy.

GeneReviews

Clinical Guidance

PTH1R-related Jansen metaphyseal chondrodysplasia (PTH1R-JMC) is an ultra-rare disorder characterized by short-limb short stature with swelling of the joints in the extremities and hypercalcemia with low-normal or suppressed parathyroid hormone (PTH) . To date, at least 30 individuals have been identified with a pathogenic variant in PTH1R . There is a wide spectrum of clinical variability. However, the natural history of PTH1R-JMC and the full spectrum of its manifestations has not been adequately described. Skeletal features may not be clinically evident at birth. Postnatal growth failure and accompanying skeletal deformities typically become apparent within early childhood . Skeletal deformities may contribute to delayed motor milestones such as pulling to stand or walking .

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

No consensus clinical diagnostic criteria for PTH1R-related Jansen metaphyseal chondrodysplasia (PTH1R-JMC) have been published. Short-limb short stature with flaring of the metaphyses in the extremities and hypercalcemia with low serum parathyroid hormone (PTH) levels are highly suggestive of PTH1R-JMC.

Suggestive Findings

PTH1R-JMC should be suspected in probands with the following clinical, laboratory, and imaging findings and family history.

Clinical findings

Source:

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 neonatal osteosclerotic dysplasia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for PTH1R-related Jansen metaphyseal chondrodysplasia (PTH1R-JMC) 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 PTH1R-JMC, 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. There is no evidence informing the frequency of surveillance in individuals with PTH1R-JMC. The recommendations are based on the authors' experience. Table 6. PTH1R-Related Jansen Metaphyseal Chondrodysplasia: Recommended Surveillance

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 neonatal osteosclerotic dysplasia.

4 publications have been identified in PubMed for neonatal osteosclerotic dysplasia. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

Toraman B (2025). [PMID: 40794899](https://pubmed.ncbi.nlm.nih.gov/40794899/). *Human molecular genetics*. [Basic Science / Preclinical]
Uludağ Alkaya D (2025). [PMID: 40198394](https://pubmed.ncbi.nlm.nih.gov/40198394/). *Calcified tissue international*. [Epidemiology / Natural History]
Costa CRR (2024). [PMID: 38664418](https://pubmed.ncbi.nlm.nih.gov/38664418/). *Scientific reports*. [Basic Science / Preclinical]
Piekos KM (2024). [PMID: 39559541](https://pubmed.ncbi.nlm.nih.gov/39559541/). *Frontiers in veterinary science*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

GARD

Genetic and Rare Diseases Info Center

Questions for Your Care Team

Questions for Your Care Team

→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