Phelan-McDermid syndrome
A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene.
Also known as: PHMDS, Phelan McDermid syndrome, Phelan-McDermid syndrome, 22q13 deletion, monosomy 22q13, monosomy type 22q13, 22q13.3 deletion syndrome, deletion 22q13.3 syndrome.
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....
Episodic vomiting
Paroxysmal, recurrent episodes of vomiting....
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....
Heat intolerance
The inability to maintain a comfortable body temperature in warm or hot weather....
Lymphedema
Localized fluid retention and tissue swelling caused by a compromised lymphatic system....
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.
Guillouet-Gordon syndrome
Guillouet-Gordon syndrome is a medical condition that may be associated with various symptoms and signs....
Phelan-McDermid syndrome
Phelan-McDermid syndrome is a medical condition that may be associated with various symptoms and signs....
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A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
intellectual developmental disorder, autosomal dominant 76
intellectual developmental disorder, autosomal dominant 76 is a medical condition that may be associated with ...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
Frequently Asked Questions
What is Phelan-McDermid syndrome?
Phelan-McDermid syndrome is a health condition described in medical literature. A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene.
What are the symptoms of Phelan-McDermid syndrome?
Phelan-McDermid syndrome is associated with 8 symptoms in the medical literature we index, including Deeply set eye, Episodic vomiting, Gastroesophageal reflux, Hearing impairment, Heat intolerance, Lymphedema. 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.