How is Cohen-Gibson syndrome inherited?

Cohen-Gibson syndrome follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How rare is Cohen-Gibson syndrome?

Cohen-Gibson syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Cohen-Gibson syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Cohen-Gibson syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Cohen-Gibson syndrome?

Currently, there is limited information about the specific complications that may arise from Cohen-Gibson syndrome. Because this is a rare condition, more research is needed to understand how it affects health over time. Families should work closely with healthcare providers to monitor any changes and address concerns as they arise.

How might Cohen-Gibson syndrome affect daily life for patients and their families?

The daily life impacts of Cohen-Gibson syndrome are not fully understood due to limited information. However, families may need to adapt their routines and seek support for any challenges that arise. It is important for families to communicate openly with healthcare providers to find the best ways to manage daily activities.

What is the prognosis for someone with Cohen-Gibson syndrome?

Information about the prognosis for Cohen-Gibson syndrome is currently limited. Since this is a rare condition, more research is needed to determine how it may affect life expectancy and overall health. Families should stay informed and work with medical professionals to understand the potential long-term outcomes.

Are there any specialists recommended for managing Cohen-Gibson syndrome?

At this time, there is limited information on specific specialists for Cohen-Gibson syndrome. However, families may benefit from consulting geneticists and other healthcare providers who specialize in rare genetic conditions. These professionals can help guide families in managing the condition and accessing appropriate resources.

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Cohen-Gibson syndrome (COGIS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Cohen-Gibson syndrome

MONDO:0060510

Also known as:COGIS

Overview

GeneticsAutosomal dominant · EED (chr 11)

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: Flared metaphysis, Large hands, Seizure, and Cataract and others; and rarely findings: Patent ductus arteriosus. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Seizure, Intellectual disability, Delayed speech and language development

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.

EED encodes embryonic ectoderm development (441 aa). Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Highest expression in Cells EBV-transformed lymphocytes (56.1 TPM) and Brain Cerebellar Hemisphere (19.2 TPM).

Cohen-Gibson syndrome has been associated with mutations in the EED gene on chromosome 11.

The EED protein participates in EED Gene:E2F1/2/3:DP1/2, PRC2 (EZH2) Core:AEBP2, and PRC2 (EZH2) Core pathways.

EED is classified as a druggable target (Clinically Actionable and Enzyme categories) with score 13.1.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

EED-related overgrowth should be suspected in individuals with the following clinical and radiographic findings.

Clinical findings

Overgrowth manifesting as:
Tall stature (z score ≥2 for age, equivalent to standard deviation ≥2 above the mean)

Note: An adult of normal stature who had relatively tall stature and/or advanced bone age in childhood or adolescence could meet criteria for overgrowth.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Cohen-Gibson syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for EED-related overgrowth have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with EED-related overgrowth, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 6.

EED-Related Overgrowth: Recommended Surveillance

System/Concern | Evaluation | Frequency/Comment

Neurologic

| Developmental assessments | Annually or as needed, to adjust therapies adapt educational needs

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 Cohen-Gibson syndrome.

4 publications have been identified in PubMed for Cohen-Gibson syndrome. Research spans Basic Science / Preclinical (75%) and Review / Meta-Analysis (25%).

Recent Publications

Cyrus SS (2025). [PMID: 40539649](https://pubmed.ncbi.nlm.nih.gov/40539649/). *Genetics*. [Basic Science / Preclinical]
Casey-Clyde T (2025). [PMID: 41329158](https://pubmed.ncbi.nlm.nih.gov/41329158/). *Elife*. [Basic Science / Preclinical]
Horsthemke B (2024). [PMID: 38854642](https://pubmed.ncbi.nlm.nih.gov/38854642/). *Med Genet*. [Review / Meta-Analysis]
Currey L (2024). [PMID: 38960704](https://pubmed.ncbi.nlm.nih.gov/38960704/). *Cereb Cortex*. [Basic Science / Preclinical]

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 5:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617561

Orphanet

European rare disease database

Orphanet:659396

GARD

Genetic and Rare Diseases Info Center

GARD:16235

Questions for Your Care Team

→Should I pursue genetic testing for EED, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Cohen-Gibson syndrome

Cohen-Gibson syndrome, also known as COGIS, is a rare genetic condition that is referenced in several medical databases including OMIM, Orphanet, and GARD. This condition has been linked to the gene EED, which may play a role in its clinical presentation. Although the details about the condition are still emerging in the literature, these established database entries affirm its recognition in the medical community. It is important to note that detailed descriptions of the condition, including its specific symptoms and the full range of its effects on health, are currently limited in the publicly available resources. Continued research and future clinical studies may provide further insights into the full spectrum of features associated with Cohen-Gibson syndrome.

Information about symptoms is currently limited for this condition.

Evidence suggests that Cohen-Gibson syndrome is linked to genetic factors, particularly involving the EED gene. However, the detailed genetic mechanisms, inheritance patterns, and risk factors associated with this condition are not fully described in the available resources. Associated genes include EED.

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GeneReviews

Clinical Guidance

EED-related overgrowth is characterized by fetal or early childhood overgrowth (tall stature, macrocephaly, large hands and feet, and advanced osseous maturation), psychomotor delay, and intellectual disability that ranges from mild to severe. Characteristic craniofacial features are more evident in infancy and childhood and tend to become less evident with age (see for photographs of one individual from age one day to 33 years). Other common features include scoliosis, hernias, cryptorchidism in males, and cardiovascular, genitourinary, and ophthalmologic manifestations. To date, EED-related overgrowth has been reported in 19 individuals [, , , , , , , , , , ]. Table 2. EED-Related Overgrowth: Frequency of Select Features

Feature	% of Persons w/Feature1	Comment
Overgrowth	15/16 for whom growth data are reported	Prenatal /or postnatal in onset
Psychomotor delay	100%	Mild to severe
Intellectual disability	100%	Mild to severe
Scoliosis	6/19	Kyphosis other spinal anomalies may be present.
Hernias	6/19	Multiple hernias may be present.
Cardiovascular manifestations	9/19	Small ASDs, VSDs, PDAs may close spontaneously; major malformations are rare.
Cryptorchidism	6/10 males	May be unilateral or bilateral
Ophthalmologic findings	12 out of 19	Myopia, Strabismus, Ptosis ASD = atrial septal defect; PDA = patent ductus arteriosus; VSD = ventricular septal defect 1. The 19 affected individuals known to date have been reported in the following publications: , , , , , , , , , , .

Source: GeneReviews — "EED-Related Overgrowth"

GeneReviews

Differential Diagnosis

Significant overlap in findings is observed between EED-related overgrowth, EZH2-related overgrowth, Sotos syndrome (associated with pathogenic variants in NSD1), and Imagawa-Matsumoto syndrome (associated with pathogenic variants in SUZ12) . Additional disorders of interest in the differential diagnosis of EED-related overgrowth are summarized in . Table 3. Disorders with Macrocephaly and Intellectual Disability of Interest in the Differential Diagnosis of EED-Related Overgrowth

Gene/ Genetic Mechanism	Disorder	MOI	Features of Disorder
EZH2	EZH2-related overgrowth (incl Weaver syndrome)	AD	Macrosomia; Craniofacial dysmorphism similar to EED-related overgrowth; Advanced bone age
Sotos syndrome	AD	Macrosomia; Craniofacial dysmorphism similar to EED-related overgrowth; Advanced bone age	Tumors occur in ~3% of affected persons.
SUZ12	SUZ12-related overgrowth (Imagawa-Matsumoto syndrome) (OMIM 618786)	AD	Postnatal overgrowth; Craniofacial dysmorphism similar to EED-related overgrowth; Advanced bone age
Beckwith-Wiedemann syndrome	See footnote 2.	Macrosomia; Neonatal hypoglycemia; Umbilical hernia	risk for variety of tumors, in particular Wilms tumor hepatoblastoma; Organomegaly; Macroglossia
DNMT3A	Tatton-Brown-Rahman syndrome (DNMT3A-related overgrowth syndrome)	AD	Macrosomia; Craniofacial dysmorphism may be similar to EED-related overgrowth in childhood.
FBN1-related Marfan syndrome	AD	Tall stature in childhood; Scoliosis; Camptodactyly	Dilatation of aortic root is more common in Marfan syndrome.; Lack of intellectual disability
FBN2	Congenital contractural arachnodactyly (CCA) (Beals syndrome)	AD	Scoliosis; Kyphosis; Camptodactyly
Simpson-Golabi-Behmel syndrome type 1	XL	Macrosomia; Macrocephaly; Hernias; Vertebral fusion; Scoliosis; Large hands	Postaxial polydactyly; Significant risk of embryonal tumors H1-4 (HIST1H1E)
HIST1H1E syndrome	AD	Camptodactyly; Kyphoscoliosis	Abnormal ...

Source: GeneReviews — "EED-Related Overgrowth"

Kisho

Cohen-Gibson syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Growth

Neurologic

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Musculoskeletal

Endocrine

Cohen-Gibson syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Cohen-Gibson syndrome?

What are the symptoms of Cohen-Gibson syndrome?

What causes Cohen-Gibson syndrome?

How is Cohen-Gibson syndrome inherited?

How rare is Cohen-Gibson syndrome?

How is Cohen-Gibson syndrome diagnosed?

Are there treatments for Cohen-Gibson syndrome?

What complications can arise from Cohen-Gibson syndrome?

How might Cohen-Gibson syndrome affect daily life for patients and their families?

What is the prognosis for someone with Cohen-Gibson syndrome?

Are there any specialists recommended for managing Cohen-Gibson syndrome?

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Growth

Neurologic

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Musculoskeletal

Endocrine