chromosome 1p36 deletion syndrome
A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
Also known as: 1p telomere deletion syndrome, 1p36 deletion syndrome, 1p36 microdeletion syndrome, Del(1)(p36), chromosome 1p36 deletion syndrome, distal, isolated cases, deletion 1p36, deletion 1pter, monosomy 1p36, monosomy 1pter, subtelomeric 1p36 deletion.
Category: General
Symptoms associated with chromosome 1p36 deletion syndrome
The following symptoms have been associated with chromosome 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....
Epileptic spasm
A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is ...
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 ...
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 chromosome 1p36 deletion syndrome
Healthcare providers may order these tests when evaluating chromosome 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 chromosome 1p36 deletion syndrome, 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....
Guillouet-Gordon syndrome
Guillouet-Gordon syndrome is a medical condition that may be associated with various symptoms and signs....
Radio-Tartaglia syndrome
A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellec...
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome is a medical condition th...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
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 chromosome 1p36 deletion syndrome?
chromosome 1p36 deletion syndrome is a health condition described in medical literature. A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
What are the symptoms of chromosome 1p36 deletion syndrome?
chromosome 1p36 deletion syndrome is associated with 9 symptoms in the medical literature we index, including Conductive hearing impairment, Constipation, Deeply set eye, Dysphagia, Epileptic spasm, Gastroesophageal reflux. Symptoms vary widely between individuals.
How is chromosome 1p36 deletion syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with chromosome 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 chromosome 1p36 deletion syndrome, please discuss your symptoms with a qualified healthcare provider.