Sotos syndrome
Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.
Also known as: NSD1 Sotos syndrome, Sotos syndrome, Sotos syndrome 1, Sotos syndrome caused by mutation in NSD1, Sotos syndrome type 1, Sotos' syndrome, cerebral gigantism, cerebral gigantism syndrome, chromosome 5q35 deletion syndrome, SOTOS1.
Category: General
Symptoms associated with Sotos syndrome
The following symptoms have been associated with Sotos syndrome in medical literature. Not everyone experiences the same symptoms.
Alopecia of scalp
Information about Alopecia of scalp....
Conductive hearing impairment
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perceptio...
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....
Hydroureter
The distention of the ureter with urine....
Increased body weight
Abnormally increased body weight....
Poor suck
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed....
Prolonged neonatal jaundice
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of incre...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate Sotos syndrome
Healthcare providers may order these tests when evaluating Sotos 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 Sotos syndrome, which is why a clinical evaluation is important.
Cornelia de Lange syndrome 1
Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene....
Nil-Deshwar neurodevelopmental syndrome
Nil-Deshwar neurodevelopmental syndrome is a medical condition that may be associated with various symptoms an...
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...
Sotos syndrome
Sotos syndrome is a medical condition that may be associated with various symptoms and signs....
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 Sotos syndrome?
Sotos syndrome is a health condition described in medical literature. Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.
What are the symptoms of Sotos syndrome?
Sotos syndrome is associated with 10 symptoms in the medical literature we index, including Alopecia of scalp, Conductive hearing impairment, Episodic vomiting, Gastroesophageal reflux, Hearing impairment, Hydroureter. Symptoms vary widely between individuals.
How is Sotos syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Sotos 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 Sotos syndrome, please discuss your symptoms with a qualified healthcare provider.