1p36 deletion syndrome
1p36 deletion syndrome is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with 1p36 deletion syndrome
The following symptoms have been associated with 1p36 deletion 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....
Dysphagia
Difficulty in swallowing....
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...
Hemiplegia/hemiparesis
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or...
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 1p36 deletion syndrome
Healthcare providers may order these tests when evaluating 1p36 deletion 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 1p36 deletion syndrome, which is why a clinical evaluation is important.
Guillouet-Gordon syndrome
Guillouet-Gordon syndrome is a medical condition that may be associated with various symptoms and signs....
Mowat-Wilson syndrome
Mowat-Wilson 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...
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome is a medical condition th...
chromosome 1p36 deletion syndrome
A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay,...
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 1p36 deletion syndrome?
1p36 deletion syndrome is a health condition described in medical literature. 1p36 deletion syndrome is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of 1p36 deletion syndrome?
1p36 deletion syndrome is associated with 9 symptoms in the medical literature we index, including Conductive hearing impairment, Constipation, Deeply set eye, Dysphagia, Failure to thrive, Gastroesophageal reflux. Symptoms vary widely between individuals.
How is 1p36 deletion syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with 1p36 deletion 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 1p36 deletion syndrome, please discuss your symptoms with a qualified healthcare provider.