How is Eiken syndrome inherited?

Eiken syndrome follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

How rare is Eiken syndrome?

Eiken syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Eiken syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Eiken syndrome?

Information about treatment options and management approaches is currently limited for this condition.

What complications can arise from Eiken syndrome?

Eiken syndrome can lead to complications related to bone development, particularly in the hands and feet. Since the condition affects how bones harden, individuals may experience difficulties with mobility or joint function as they grow. It's important to monitor these changes closely with a healthcare provider.

How does Eiken syndrome affect daily life?

Living with Eiken syndrome may involve challenges due to the effects on bone development. Activities that require fine motor skills, like writing or using tools, could be impacted. Families may need to adapt daily routines and seek support to help manage these challenges.

What is the prognosis for someone with Eiken syndrome?

Information about the long-term prognosis for Eiken syndrome is currently limited. Since it is a rare condition, understanding how it affects life expectancy or quality of life is still being researched. Regular check-ups with healthcare providers can help manage symptoms and monitor progress.

Are there any specialists recommended for Eiken syndrome?

While specific specialist recommendations for Eiken syndrome are not detailed, it may be beneficial to consult with a geneticist or an orthopedic specialist. These professionals can help manage the skeletal issues associated with the condition and provide guidance on care and support.

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Eiken syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Eiken syndrome

MONDO:0010803

Also known as:Eiken skeletal dysplasiabone modeling defect of hands and feetbone modelling defect of hands and feet

Overview

Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.

GeneticsAutosomal recessive · PTH1R (chr 3)

ResearchLimited published research (3 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.

Features include always present findings: Decreased body weight, Broad femoral neck, Thickened calvaria, and Short stature and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Broad femoral neck, Narrow pelvis bone, Skeletal dysplasia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

PTH1R function has not been fully characterized.

Eiken syndrome is associated with mutations in the PTH1R gene on chromosome 3.

GeneReviews

Clinical Guidance

Given the ultra-rare nature of PTH1R-JMC, studies detailing genotype-phenotype correlation have not been performed.

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 Eiken syndrome. 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 Eiken syndrome.

3 publications have been identified in PubMed for Eiken syndrome. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Portales-Castillo I (2025). [PMID: 40904804](https://pubmed.ncbi.nlm.nih.gov/40904804/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Monahan G (2025). [PMID: 41031626](https://pubmed.ncbi.nlm.nih.gov/41031626/). *J Bone Miner Res*. [Basic Science / Preclinical]
Calder AD (2024). [PMID: 39276366](https://pubmed.ncbi.nlm.nih.gov/39276366/). *J Bone Miner Res*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600002

Orphanet

European rare disease database

Orphanet:79106

GARD

Genetic and Rare Diseases Info Center

GARD:16698

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?

FAQ

Frequently Asked Questions

Common questions about Eiken syndrome

Eiken syndrome is a rare skeletal dysplasia that affects bone development. It is marked by multiple epiphyseal dysplasia and extremely retarded ossification, which means that the normal process of bone hardening is significantly slowed. It was originally observed in a unique consanguineous family, indicating a familial pattern for the condition. People with this condition experience changes in the development of their bones, especially in the hands and feet, as indicated by the description of a bone modeling defect in these areas. Information about other aspects of the disorder is currently limited.

Information about symptoms is currently limited for this condition.

Eiken syndrome appears to be a familial condition that is linked to changes in the gene known as PTH1R. The condition has been reported in a consanguineous family, suggesting that it may be inherited when closely related individuals carry the gene variation. Associated genes include PTH1R.

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Eiken syndrome

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Eiken syndrome?

What are the symptoms of Eiken syndrome?

What causes Eiken syndrome?

How is Eiken syndrome inherited?

How rare is Eiken syndrome?

How is Eiken syndrome diagnosed?

Are there treatments for Eiken syndrome?

What complications can arise from Eiken syndrome?

How does Eiken syndrome affect daily life?

What is the prognosis for someone with Eiken syndrome?

Are there any specialists recommended for Eiken syndrome?

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

COL10A1

FGFR3

Skeletal abnormalities

Growth

Craniosynostosis

Teeth/Malocclusion

Hearing

Eyes/ Visual deficits

Endocrine/Nephrocalcinosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials