Emanuel syndrome
Emanuel syndrome is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Emanuel syndrome
The following symptoms have been associated with Emanuel syndrome in medical literature. Not everyone experiences the same symptoms.
Constipation
Infrequent or difficult evacuation of feces....
Cough
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation....
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Dysphagia
Difficulty in swallowing....
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....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate Emanuel syndrome
Healthcare providers may order these tests when evaluating Emanuel 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 Emanuel syndrome, which is why a clinical evaluation is important.
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RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
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ReNU syndrome
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mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
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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 Emanuel syndrome?
Emanuel syndrome is a health condition described in medical literature. Emanuel syndrome is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Emanuel syndrome?
Emanuel syndrome is associated with 8 symptoms in the medical literature we index, including Constipation, Cough, Deeply set eye, Dysphagia, Failure to thrive, Gastroesophageal reflux. Symptoms vary widely between individuals.
How is Emanuel syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Emanuel 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 Emanuel syndrome, please discuss your symptoms with a qualified healthcare provider.