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lethal osteosclerotic bone dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal osteosclerotic bone dysplasia

MONDO:0009821

Also known as:RAINE syndromeosteomalacia, sclerosing, with cerebral calcificationosteosclerotic bone dysplasia, lethal

Overview

Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

GeneticsAutosomal recessive · FAM20C (chr 7)

ResearchLimited published research (5 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: Subperiosteal bone formation and Increased bone density (increased bone mineral density); and very common findings: Thoracic hypoplasia. 50 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Hydrocephalus, Global developmental delay, Cerebral calcification

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.

FAM20C encodes FAM20C golgi associated secretory pathway kinase (584 aa). Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth.

Lethal osteosclerotic bone dysplasia is strongly associated with mutations in the FAM20C gene on chromosome 7.

The FAM20C protein participates in FAM20C substrates and FAM20C:FAM20C substrates pathways.

FAM20C is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Diagnosis

Genetic testing for FAM20C is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 2 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 lethal osteosclerotic bone dysplasia.

5 publications have been identified in PubMed for lethal osteosclerotic bone dysplasia. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Case Report / Case Series (20%).

Recent Publications

Au CW (2026). [PMID: 41174912](https://pubmed.ncbi.nlm.nih.gov/41174912/). *Am J Med Genet A*. [Case Report / Case Series]
Lazarczyk E (2026). [PMID: 41896969](https://pubmed.ncbi.nlm.nih.gov/41896969/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Chen M (2025). [PMID: 39748245](https://pubmed.ncbi.nlm.nih.gov/39748245/). *BMC Mol Cell Biol*. [Basic Science / Preclinical]
Toraman B (2025). [PMID: 40794899](https://pubmed.ncbi.nlm.nih.gov/40794899/). *Hum Mol Genet*. [Basic Science / Preclinical]
Baker A (2025). [PMID: 41241263](https://pubmed.ncbi.nlm.nih.gov/41241263/). *Matrix Biol*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:259660 OMIM:259775

Orphanet

European rare disease database

Orphanet:1832

GARD

Genetic and Rare Diseases Info Center

GARD:282

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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lethal osteosclerotic bone 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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