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diaphanospondylodysostosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diaphanospondylodysostosis

MONDO:0011946

Also known as:vertebral ossification, defect in, with nephrogenic rests

Overview

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

GeneticsAutosomal recessive · BMPER (chr 7)

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: Decreased skull ossification, Delayed vertebral ossification, and Absent in utero ossification of vertebral bodies; and common findings: Horseshoe kidney, Increased nuchal translucency, Talipes equinovarus, and Absent fetal nasal bone. 46 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Narrow pelvis bone, Delayed vertebral ossification, Absent in utero ossification of vertebral bodies

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.

BMPER encodes BMP binding endothelial regulator (685 aa). Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes Highest expression in Cells Cultured fibroblasts (18.9 TPM) and Brain Cerebellar Hemisphere (12.3 TPM).

Diaphanospondylodysostosis is associated with mutations in the BMPER gene on chromosome 7.

BMPER is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for BMPER is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 4 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 diaphanospondylodysostosis.

2 publications have been identified in PubMed for diaphanospondylodysostosis. Research spans Other (50%) and Case Report / Case Series (50%).

Recent Publications

Gregersen PA (2025). [PMID: 39239663](https://pubmed.ncbi.nlm.nih.gov/39239663/). *Clin Genet*. [Case Report / Case Series]
Gofin Y (2025). [PMID: 39972153](https://pubmed.ncbi.nlm.nih.gov/39972153/). *Pediatr Res*. [Other]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608022

Orphanet

European rare disease database

Orphanet:66637

GARD

Genetic and Rare Diseases Info Center

GARD:16674

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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diaphanospondylodysostosis

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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