Phelan-McDermid syndrome
Phelan-McDermid syndrome is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Phelan-McDermid syndrome
The following symptoms have been associated with Phelan-McDermid syndrome in medical literature. Not everyone experiences the same symptoms.
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
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....
Lymphedema
Localized fluid retention and tissue swelling caused by a compromised lymphatic system....
Nausea and vomiting
Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling th...
Palpebral edema
Edema in the region of the eyelids....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate Phelan-McDermid syndrome
Healthcare providers may order these tests when evaluating Phelan-McDermid 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 Phelan-McDermid syndrome, which is why a clinical evaluation is important.
Fabry disease
Fabry disease is a medical condition that may be associated with various symptoms and signs....
Guillouet-Gordon syndrome
Guillouet-Gordon syndrome is a medical condition that may be associated with various symptoms and signs....
Phelan-McDermid syndrome
A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, no...
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...
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
Frequently Asked Questions
What is Phelan-McDermid syndrome?
Phelan-McDermid syndrome is a health condition described in medical literature. Phelan-McDermid syndrome is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Phelan-McDermid syndrome?
Phelan-McDermid syndrome is associated with 7 symptoms in the medical literature we index, including Deeply set eye, Gastroesophageal reflux, Hearing impairment, Lymphedema, Nausea and vomiting, Palpebral edema. Symptoms vary widely between individuals.
How is Phelan-McDermid syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Phelan-McDermid 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 Phelan-McDermid syndrome, please discuss your symptoms with a qualified healthcare provider.