Smith-Magenis syndrome
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
Also known as: 17p11.2 microdeletion syndrome, SMITH-Magenis syndrome, SMS, Smith Magenis Syndrome, Smith-Magenis syndrome, Smith-Magenis syndrome, Isolated cases, chromosome 17P11.2 deletion syndrome, chromosome 17p11.2 deletion syndrome.
Category: General
Symptoms associated with Smith-Magenis syndrome
The following symptoms have been associated with Smith-Magenis syndrome in medical literature. Not everyone experiences the same symptoms.
Constipation
Infrequent or difficult evacuation of feces....
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
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...
Generalized non-motor (absence) seizure
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographical...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Hoarse voice
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy...
Increased body weight
Abnormally increased body weight....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate Smith-Magenis syndrome
Healthcare providers may order these tests when evaluating Smith-Magenis 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 Smith-Magenis syndrome, which is why a clinical evaluation is important.
Dubowitz syndrome
Dubowitz syndrome is a medical condition that may be associated with various symptoms and signs....
Emanuel syndrome
Emanuel syndrome 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...
ReNU syndrome
ReNU syndrome is a medical condition that may be associated with various symptoms and signs....
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
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 Smith-Magenis syndrome?
Smith-Magenis syndrome is a health condition described in medical literature. Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
What are the symptoms of Smith-Magenis syndrome?
Smith-Magenis syndrome is associated with 9 symptoms in the medical literature we index, including Constipation, Deeply set eye, Failure to thrive, Gastroesophageal reflux, Generalized non-motor (absence) seizure, Hearing impairment. Symptoms vary widely between individuals.
How is Smith-Magenis syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Smith-Magenis 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 Smith-Magenis syndrome, please discuss your symptoms with a qualified healthcare provider.