Radio-Tartaglia syndrome
A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.
Also known as: SPEN-related neurodevelopmental disorder.
Category: General
Symptoms associated with Radio-Tartaglia syndrome
The following symptoms have been associated with Radio-Tartaglia syndrome in medical literature. Not everyone experiences the same symptoms.
Conductive hearing impairment
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perceptio...
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....
Dry skin
Skin characterized by the lack of natural or normal moisture....
Dysphagia
Difficulty in swallowing....
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....
Periorbital fullness
Increase in periorbital soft tissue....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Tests used to investigate Radio-Tartaglia syndrome
Healthcare providers may order these tests when evaluating Radio-Tartaglia 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 Radio-Tartaglia syndrome, which is why a clinical evaluation is important.
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Dursun-Ozgul neurodevelopmental syndrome
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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....
chromosome 1p36 deletion syndrome
A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay,...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
Frequently Asked Questions
What is Radio-Tartaglia syndrome?
Radio-Tartaglia syndrome is a health condition described in medical literature. A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.
What are the symptoms of Radio-Tartaglia syndrome?
Radio-Tartaglia syndrome is associated with 10 symptoms in the medical literature we index, including Conductive hearing impairment, Constipation, Deeply set eye, Dry skin, Dysphagia, Gastroesophageal reflux. Symptoms vary widely between individuals.
How is Radio-Tartaglia syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Radio-Tartaglia 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 Radio-Tartaglia syndrome, please discuss your symptoms with a qualified healthcare provider.