Rubinstein-Taybi syndrome 1
Rubinstein-Taybi syndrome 1 is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Rubinstein-Taybi syndrome 1
The following symptoms have been associated with Rubinstein-Taybi syndrome 1 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...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate Rubinstein-Taybi syndrome 1
Healthcare providers may order these tests when evaluating Rubinstein-Taybi syndrome 1. 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 1, which is why a clinical evaluation is important.
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....
Smith-Magenis syndrome
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sle...
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 Rubinstein-Taybi syndrome 1?
Rubinstein-Taybi syndrome 1 is a health condition described in medical literature. Rubinstein-Taybi syndrome 1 is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Rubinstein-Taybi syndrome 1?
Rubinstein-Taybi syndrome 1 is associated with 6 symptoms in the medical literature we index, including Constipation, Deeply set eye, Failure to thrive, Gastroesophageal reflux, Hearing impairment, Seizure. Symptoms vary widely between individuals.
How is Rubinstein-Taybi syndrome 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Rubinstein-Taybi syndrome 1 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 1, please discuss your symptoms with a qualified healthcare provider.