Coffin Siris syndrome

Coffin–Siris syndrome
Synonyms
Pronounce	N/A
Specialty	N/A
Symptoms	N/A
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Coffin–Siris syndrome is a rare genetic disorder characterized by developmental delays, intellectual disability, distinctive facial features, and hypoplasia or absence of the fifth fingernails or toenails. The syndrome was first described in 1970 by Dr. Grange S. Coffin and Dr. Evelyn Siris.

Etiology

Coffin–Siris syndrome is caused by mutations in genes that are part of the BAF complex, a group of proteins involved in chromatin remodeling. The most commonly affected genes include ARID1B, SMARCB1, SMARCA4, SMARCE1, and ARID1A. These mutations are typically de novo, meaning they occur spontaneously and are not inherited from the parents.

Clinical Features

Individuals with Coffin–Siris syndrome often present with:

• Developmental delay and intellectual disability
• Distinctive facial features such as thick eyebrows, long eyelashes, a wide mouth, and a flat nasal bridge
• Hypoplasia or absence of the fifth fingernails or toenails
• Hypotonia (reduced muscle tone)
• Feeding difficulties in infancy
• Short stature
• Microcephaly (small head size)

Diagnosis

Diagnosis of Coffin–Siris syndrome is based on clinical evaluation and confirmed by genetic testing. The presence of characteristic physical features and developmental delays often prompts genetic testing to identify mutations in the associated genes.

Management

There is no cure for Coffin–Siris syndrome, and treatment is symptomatic and supportive. Management strategies may include:

• Early intervention programs and special education to address developmental delays
• Physical therapy to improve muscle tone and motor skills
• Speech therapy to assist with communication difficulties
• Regular monitoring and management of associated health issues

Prognosis

The prognosis for individuals with Coffin–Siris syndrome varies depending on the severity of symptoms and associated health issues. With appropriate support and interventions, many individuals can lead fulfilling lives.

Also see

• Genetic disorder
• Developmental delay
• Intellectual disability
• Chromatin remodeling

References

• Coffin GS, Siris E. "Mental retardation with absent fifth fingernail and terminal phalanx." Am J Dis Child. 1970.
• Tsurusaki Y, et al. "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome." Nat Genet. 2012.