Coffin-Siris syndrome 6
Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.
Also known as: ARID2-related BAFopathy, Coffin-Siris syndrome 6, CSS6.
Category: General
Symptoms associated with Coffin-Siris syndrome 6
The following symptoms have been associated with Coffin-Siris syndrome 6 in medical literature. Not everyone experiences the same symptoms.
Anxiety
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is...
Chronic constipation
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard...
Conductive hearing impairment
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perceptio...
Constipation
Infrequent or difficult evacuation of feces....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Generalised tonic-clonic seizure without focal onset
A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characteri...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Periorbital fullness
Increase in periorbital soft tissue....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tonic seizure
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevati...
Typical absence seizure
A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden ons...
Tests used to investigate Coffin-Siris syndrome 6
Healthcare providers may order these tests when evaluating Coffin-Siris syndrome 6. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Coffin-Siris syndrome 6, which is why a clinical evaluation is important.
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion is a medical condition that...
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
Sotos syndrome
Sotos syndrome is a medical condition that may be associated with various symptoms and signs....
intellectual developmental disorder, autosomal dominant 77
intellectual developmental disorder, autosomal dominant 77 is a medical condition that may be associated with ...
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation i...
neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures
neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures is a medical condition that ...
Frequently Asked Questions
What is Coffin-Siris syndrome 6?
Coffin-Siris syndrome 6 is a health condition described in medical literature. Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.
What are the symptoms of Coffin-Siris syndrome 6?
Coffin-Siris syndrome 6 is associated with 11 symptoms in the medical literature we index, including Anxiety, Chronic constipation, Conductive hearing impairment, Constipation, Gastroesophageal reflux, Generalised tonic-clonic seizure without focal onset. Symptoms vary widely between individuals.
How is Coffin-Siris syndrome 6 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Coffin-Siris syndrome 6 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Coffin-Siris syndrome 6, please discuss your symptoms with a qualified healthcare provider.