craniofaciocardiohepatic syndrome
craniofaciocardiohepatic syndrome is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with craniofaciocardiohepatic syndrome
The following symptoms have been associated with craniofaciocardiohepatic syndrome in medical literature. Not everyone experiences the same symptoms.
Bruising susceptibility
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ru...
Cerebral hemorrhage
Hemorrhage into the parenchyma of the brain....
Chronic constipation
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard...
Constipation
Infrequent or difficult evacuation of feces....
Dysphagia
Difficulty in swallowing....
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....
Mixed hearing impairment
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing...
Pruritus
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally incr...
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 craniofaciocardiohepatic syndrome
Healthcare providers may order these tests when evaluating craniofaciocardiohepatic syndrome. 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 craniofaciocardiohepatic syndrome, which is why a clinical evaluation is important.
Mucopolysaccharidosis type 3
Mucopolysaccharidosis type 3 is a medical condition that may be associated with various symptoms and signs....
Osteogenesis imperfecta
Osteogenesis imperfecta is a medical condition that may be associated with various symptoms and signs....
chromosome 1p36 deletion syndrome
A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay,...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
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 craniofaciocardiohepatic syndrome?
craniofaciocardiohepatic syndrome is a health condition described in medical literature. craniofaciocardiohepatic syndrome is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of craniofaciocardiohepatic syndrome?
craniofaciocardiohepatic syndrome is associated with 10 symptoms in the medical literature we index, including Bruising susceptibility, Cerebral hemorrhage, Chronic constipation, Constipation, Dysphagia, Gastroesophageal reflux. Symptoms vary widely between individuals.
How is craniofaciocardiohepatic syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with craniofaciocardiohepatic syndrome 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 craniofaciocardiohepatic syndrome, please discuss your symptoms with a qualified healthcare provider.