Cohen-Gibson syndrome

A rare genetic disorder

Cohen-Gibson syndrome
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Overgrowth, intellectual disability, distinctive facial features
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Mutations in the EED gene
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic and supportive care
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Cohen-Gibson syndrome is a rare genetic disorder characterized by overgrowth, distinctive facial features, and intellectual disability. It is caused by mutations in the EED gene, which plays a crucial role in the regulation of gene expression through the Polycomb repressive complex 2 (PRC2). This syndrome was first described in 2015 by Cohen et al. and Gibson et al. in separate studies.

Clinical Features

Individuals with Cohen-Gibson syndrome typically present with a range of clinical features, including:

• Overgrowth: Affected individuals often exhibit increased growth parameters, such as height and head circumference, from birth.
• Distinctive facial features: These may include a prominent forehead, hypertelorism (widely spaced eyes), a broad nasal bridge, and a long philtrum.
• Intellectual disability: Varying degrees of intellectual disability are common, with some individuals also experiencing developmental delays.
• Other features: Additional features may include hypotonia (reduced muscle tone), joint hypermobility, and congenital heart defects.

Genetics

Cohen-Gibson syndrome is caused by mutations in the EED gene, which is located on chromosome 11q14.2. The EED gene encodes a component of the Polycomb repressive complex 2 (PRC2), which is involved in the epigenetic regulation of gene expression. Mutations in this gene disrupt normal PRC2 function, leading to the clinical manifestations of the syndrome.

Diagnosis

Diagnosis of Cohen-Gibson syndrome is based on clinical evaluation and confirmed by genetic testing. The identification of pathogenic variants in the EED gene through next-generation sequencing or other genetic testing methods is essential for a definitive diagnosis.

Management

There is currently no cure for Cohen-Gibson syndrome, and management is primarily supportive and symptomatic. This may include:

• Developmental support: Early intervention programs, special education, and therapies such as speech, occupational, and physical therapy can help address developmental delays and intellectual disability.
• Medical management: Regular monitoring and treatment of associated medical issues, such as heart defects or hypotonia, are important.
• Genetic counseling: Families may benefit from genetic counseling to understand the inheritance pattern and implications of the disorder.

Prognosis

The prognosis for individuals with Cohen-Gibson syndrome varies depending on the severity of symptoms and associated complications. With appropriate management and support, individuals can achieve improved quality of life.

Research Directions

Ongoing research aims to better understand the molecular mechanisms underlying Cohen-Gibson syndrome and to explore potential therapeutic approaches. Advances in gene therapy and epigenetic modulation hold promise for future treatments.

Also see

• Overgrowth syndromes
• Intellectual disability
• Genetic counseling
• Epigenetics