Cornelia de Lange syndrome 1
Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.
Also known as: Cornelia De Lange syndrome type 1, Cornelia de Lange syndrome 1, Cornelia de Lange syndrome caused by mutation in NIPBL, NIPBL Cornelia de Lange syndrome, CDLS1.
Category: General
Symptoms associated with Cornelia de Lange syndrome 1
The following symptoms have been associated with Cornelia de Lange syndrome 1 in medical literature. Not everyone experiences the same symptoms.
Anxiety
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is...
Conductive hearing impairment
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perceptio...
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....
Poor suck
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed....
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 Cornelia de Lange syndrome 1
Healthcare providers may order these tests when evaluating Cornelia de Lange 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 Cornelia de Lange syndrome 1, which is why a clinical evaluation is important.
Guillouet-Gordon syndrome
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Nil-Deshwar neurodevelopmental syndrome
Nil-Deshwar neurodevelopmental syndrome is a medical condition that may be associated with various symptoms an...
Sotos syndrome
Sotos syndrome is a medical condition that may be associated with various symptoms and signs....
White-Sutton syndrome
White-Sutton syndrome is a medical condition that may be associated with various symptoms and signs....
intellectual developmental disorder, X-linked, syndromic 37
intellectual developmental disorder, X-linked, syndromic 37 is a medical condition that may be associated with...
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 Cornelia de Lange syndrome 1?
Cornelia de Lange syndrome 1 is a health condition described in medical literature. Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.
What are the symptoms of Cornelia de Lange syndrome 1?
Cornelia de Lange syndrome 1 is associated with 7 symptoms in the medical literature we index, including Anxiety, Conductive hearing impairment, Gastroesophageal reflux, Hearing impairment, Poor suck, Seizure. Symptoms vary widely between individuals.
How is Cornelia de Lange syndrome 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Cornelia de Lange 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 Cornelia de Lange syndrome 1, please discuss your symptoms with a qualified healthcare provider.