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
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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]
- Mild to severe intellectual disability
- Mild to severe speech delay
- Mild to severe delay in motor skills, such as sitting and walking
- Underdeveloped fingertips ...
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
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Types of Coffin-Siris syndrome
Some types of this condition may include:3 Types of Coffin-Siris syndrome:
- Coffin-Siris Syndrome
- Coffin-Siris Syndrome 5; CSS5
- Mental Retardation, Autosomal Dominant 12
- Mental Retardation, Autosomal Dominant 14
- Mental Retardation, Autosomal Dominant 15
- Mental Retardation, Autosomal Dominant 16
- Mental Retardation, Autosomal Dominant 27
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
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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
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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
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Names and Terminology
Other Names for This Condition
- dwarfism-onychodysplasia
- fifth digit syndrome
- mental retardation with hypoplastic fifth fingernails and toenails
- short stature-onychodysplasia
Source: GHR (NLM/NIH)
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References
- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ coffin-siris-syndrome
- Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6124/ coffin-siris-syndrome
- Source: NCI Thesaurus
- Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6124/ coffin-siris-syndrome
- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ coffin-siris-syndrome
- Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6124/ coffin-siris-syndrome
- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ coffin-siris-syndrome
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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.