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lethal occipital encephalocele-skeletal dysplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal occipital encephalocele-skeletal dysplasia syndrome

MONDO:0013740

Also known as:craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomaliesRHFCAradiohumeral fusions with other skeletal and craniofacial anomalies

Overview

Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.

GeneticsAutosomal recessive · CYP26B1 (chr 2)

ResearchLimited published research (1 article)

Clinical Presentation

Features include: Oligodactyly, Arachnodactyly, Craniosynostosis, and Occipital encephalocele and 2 more.

Organ System	Phenotype Count	Example Features
Head and neck	1	Craniosynostosis

Explore clinical features

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.

CYP26B1 encodes cytochrome P450 family 26 subfamily B member 1 (512 aa). A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals. Highest expression in Brain Cerebellar Hemisphere (65.3 TPM) and Brain Cerebellum (56.0 TPM).

Lethal occipital encephalocele-skeletal dysplasia syndrome is associated with mutations in the CYP26B1 gene on chromosome 2.

The CYP26B1 protein participates in Defective CYP26B1 causes RHFCA, Defective CYP26B1 does not 4-hydroxylate atRA, and CYP26A1,B1,C1 4-hydroxylate atRA pathways.

CYP26B1 is classified as a druggable target (Cytochrome P450, Druggable Genome, and Enzyme categories) with score 10.4.

Diagnosis

Genetic testing for CYP26B1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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 occipital encephalocele-skeletal dysplasia syndrome.

1 publication has been identified in PubMed for lethal occipital encephalocele-skeletal dysplasia syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Moulehi K (2025). [PMID: 41858965](https://pubmed.ncbi.nlm.nih.gov/41858965/). *Pan Afr Med J*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614416

Orphanet

European rare disease database

Orphanet:293925

GARD

Genetic and Rare Diseases Info Center

GARD:17348

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 occipital encephalocele-skeletal dysplasia syndrome

Overview

Clinical Presentation

Explore clinical features

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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