cardiofaciocutaneous syndrome 1
Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.
Also known as: cardiofaciocutaneous syndrome, BRAF cardiofaciocutaneous syndrome, cardiofaciocutaneous syndrome 1, cardiofaciocutaneous syndrome caused by mutation in BRAF, cardiofaciocutaneous syndrome type 1, CFC1.
Category: General
Symptoms associated with cardiofaciocutaneous syndrome 1
The following symptoms have been associated with cardiofaciocutaneous syndrome 1 in medical literature. Not everyone experiences the same symptoms.
Constipation
Infrequent or difficult evacuation of feces....
Dry skin
Skin characterized by the lack of natural or normal moisture....
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...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Progressive visual loss
A reduction of previously attained ability to see....
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....
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate cardiofaciocutaneous syndrome 1
Healthcare providers may order these tests when evaluating cardiofaciocutaneous syndrome 1. 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 cardiofaciocutaneous syndrome 1, which is why a clinical evaluation is important.
Alobar holoprosencephaly
Alobar holoprosencephaly is a medical condition that may be associated with various symptoms and signs....
Dubowitz syndrome
Dubowitz syndrome is a medical condition that may be associated with various symptoms and signs....
Lobar holoprosencephaly
Lobar holoprosencephaly is a medical condition that may be associated with various symptoms and signs....
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...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
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 cardiofaciocutaneous syndrome 1?
cardiofaciocutaneous syndrome 1 is a health condition described in medical literature. Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.
What are the symptoms of cardiofaciocutaneous syndrome 1?
cardiofaciocutaneous syndrome 1 is associated with 9 symptoms in the medical literature we index, including Constipation, Dry skin, Failure to thrive, Gastroesophageal reflux, Hearing impairment, Progressive visual loss. Symptoms vary widely between individuals.
How is cardiofaciocutaneous syndrome 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with cardiofaciocutaneous syndrome 1 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 cardiofaciocutaneous syndrome 1, please discuss your symptoms with a qualified healthcare provider.