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regressive spondylometaphyseal dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

regressive spondylometaphyseal dysplasia

MONDO:0018663

Also known as:Pelger-Huet anomaly with mild skeletal anomalies

Overview

GeneticsAutosomal recessive · LBR (chr 1)

ResearchLimited published research (2 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: Flared metaphysis, Limited elbow extension, Rhizomelia, and Femoral bowing and others; and common findings: Low muscle tone (hypotonia), Joint dislocation, Relative macrocephaly, and Broad hallux and others.

Organ System	Phenotype Count	Example Features
Bones and joints	10	Femoral bowing, Joint dislocation, Short femoral neck

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.

LBR encodes lamin B receptor (615 aa). Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis. Highest expression in Colon Sigmoid (89.3 TPM) and Cells EBV-transformed lymphocytes (88.9 TPM).

Regressive spondylometaphyseal dysplasia has been associated with mutations in the LBR gene on chromosome 1.

The LBR protein participates in 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR], 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [TM7SF2], and RHOC activates endoplasmic reticulum effectors pathways.

LBR is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LBR is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 27 always present features, 18 common features.

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 regressive spondylometaphyseal dysplasia.

2 publications have been identified in PubMed for regressive spondylometaphyseal dysplasia. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Yin J (2025). [PMID: 40980134](https://pubmed.ncbi.nlm.nih.gov/40980134/). *Front Pediatr*. [Case Report / Case Series]
Chen Y (2025). [PMID: 40355051](https://pubmed.ncbi.nlm.nih.gov/40355051/). *Biochim Biophys Acta Mol Basis Dis*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 4:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618019

Orphanet

European rare disease database

Orphanet:448267

GARD

Genetic and Rare Diseases Info Center

GARD:17782

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?

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regressive spondylometaphyseal dysplasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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