Coffin-Siris syndrome 12
Coffin-Siris syndrome 12 is a medical condition that may be associated with various symptoms and signs.
Also known as: CSS12.
Category: General
Symptoms associated with Coffin-Siris syndrome 12
The following symptoms have been associated with Coffin-Siris syndrome 12 in medical literature. Not everyone experiences the same symptoms.
Chronic constipation
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard...
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Tests used to investigate Coffin-Siris syndrome 12
Healthcare providers may order these tests when evaluating Coffin-Siris syndrome 12. 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 12, which is why a clinical evaluation is important.
1p36 deletion syndrome
1p36 deletion syndrome is a medical condition that may be associated with various symptoms and signs....
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...
Carey-Fineman-Ziter syndrome 1
A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial ...
D-glyceric aciduria
A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Cl...
Tessadori-Van Haaften neurodevelopmental syndrome 3
Tessadori-Van Haaften neurodevelopmental syndrome 3 is a medical condition that may be associated with various...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is Coffin-Siris syndrome 12?
Coffin-Siris syndrome 12 is a health condition described in medical literature. Coffin-Siris syndrome 12 is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Coffin-Siris syndrome 12?
Coffin-Siris syndrome 12 is associated with 7 symptoms in the medical literature we index, including Chronic constipation, Deeply set eye, Facial palsy, Failure to thrive, Gastroesophageal reflux, Seizure. Symptoms vary widely between individuals.
How is Coffin-Siris syndrome 12 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Coffin-Siris syndrome 12 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 12, please discuss your symptoms with a qualified healthcare provider.