Coffin-Siris syndrome

Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features. Most affected ...1

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Symptoms of Coffin-Siris syndrome

Symptoms: The signs and symptoms of Coffin-Siris syndrome vary. More commonly described symptoms include:[1]

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Causes of Coffin-Siris syndrome

Cause: Coffin-Siris syndrome is caused by a change (mutation) in either the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Exactly how these gene mutations result in the symptoms of Coffin-Siris syndrome is not known, however it is thought ...2

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Types of Coffin-Siris syndrome

Some types of this condition may include:3 Types of Coffin-Siris syndrome:

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Diagnosis of Coffin-Siris syndrome

Diagnosis: Diagnosis of Coffin-Siris syndrome is largely based upon the presence or absence of common signs and symptoms in the individual. While formal diagnostic criteria have not been established, most individuals with a clinical diagnosis of Coffin-Siris syndrome ...4

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Genetics of Coffin-Siris syndrome

Genetic Changes: Coffin-Siris syndrome is caused by mutations in the ARID1A , ARID1B , SMARCA4 , SMARCB1 , or SMARCE1 gene. Each of these genes provides instructions for making one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate ...5

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Treatments: Coffin-Siris syndrome

Treatment: People with Coffin-Siris syndrome may benefit from occupational, physical, and speech therapy. Developmental pediatricians may be helpful in recommending and coordinating therapeutic and educational interventions. Additional specialty care may be needed depending on the symptoms in the individual ...6

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH) ...7

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ coffin-siris-syndrome
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6124/ coffin-siris-syndrome
  3. Source: NCI Thesaurus
  4. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6124/ coffin-siris-syndrome
  5. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ coffin-siris-syndrome
  6. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6124/ coffin-siris-syndrome
  7. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ coffin-siris-syndrome

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