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endocrine-cerebro-osteodysplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

endocrine-cerebro-osteodysplasia syndrome

MONDO:0012980

Also known as:ECO syndromeECOendocrine-CEREBROOSTEODYSPLASIA

Overview

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

GeneticsAutosomal recessive · CILK1 (chr 6)

ResearchLimited published research (4 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: Micromelia, Single transverse palmar crease, Deeply set eye, and Midface retrusion and others; and very common findings: Median cleft palate. 50 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Median cleft upper lip, Bilateral cleft lip, Median cleft palate

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.

CILK1 encodes ciliogenesis associated kinase 1 (632 aa). Required for ciliogenesis. Phosphorylates KIF3A. Involved in the control of ciliary length. Highest expression in Adrenal Gland (27.2 TPM) and Colon Sigmoid (17.1 TPM).

Endocrine-cerebro-osteodysplasia syndrome is associated with mutations in the CILK1 gene on chromosome 6.

CILK1 is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Diagnosis

Genetic testing for CILK1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 13 always present features, 1 very common feature, 15 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 endocrine-cerebro-osteodysplasia syndrome.

4 publications have been identified in PubMed for endocrine-cerebro-osteodysplasia syndrome. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Song J (2026). [PMID: 41192595](https://pubmed.ncbi.nlm.nih.gov/41192595/). *Cell Mol Gastroenterol Hepatol*. [Basic Science / Preclinical]
Lakaye B (2025). [PMID: 40564020](https://pubmed.ncbi.nlm.nih.gov/40564020/). *Biomedicines*. [Review / Meta-Analysis]
Sezer A (2025). [PMID: 40615527](https://pubmed.ncbi.nlm.nih.gov/40615527/). *Eur J Hum Genet*. [Case Report / Case Series]
Chaya T (2025). [PMID: 40636449](https://pubmed.ncbi.nlm.nih.gov/40636449/). *Front Mol Biosci*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612651

Orphanet

European rare disease database

Orphanet:199332

GARD

Genetic and Rare Diseases Info Center

GARD:17094

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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endocrine-cerebro-osteodysplasia syndrome

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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