Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
The following symptoms have been associated with Rubinstein-Taybi syndrome due to 16p13.3 microdeletion in medical literature. Not everyone experiences the same symptoms.
Abnormal fear-induced behavior
An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal resp...
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....
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...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Tests used to investigate Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Healthcare providers may order these tests when evaluating Rubinstein-Taybi syndrome due to 16p13.3 microdeletion. 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 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion, which is why a clinical evaluation is important.
1p36 deletion syndrome
1p36 deletion 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...
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to CREBBP mutations is a medical condition that may be associated with various s...
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency is a medical condition that may be associated with v...
White-Sutton syndrome
White-Sutton syndrome is a medical condition that may be associated with various symptoms and signs....
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 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion?
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion is a health condition described in medical literature. Rubinstein-Taybi syndrome due to 16p13.3 microdeletion is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Rubinstein-Taybi syndrome due to 16p13.3 microdeletion?
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion is associated with 7 symptoms in the medical literature we index, including Abnormal fear-induced behavior, Conductive hearing impairment, Constipation, Failure to thrive, Gastroesophageal reflux, Seizure. Symptoms vary widely between individuals.
How is Rubinstein-Taybi syndrome due to 16p13.3 microdeletion diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 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 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion, please discuss your symptoms with a qualified healthcare provider.