Cockayne syndrome type 1
Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.
Also known as: Cockayne syndrome A, Cockayne syndrome caused by mutation in ERCC8, Cockayne syndrome type 1, Cockayne syndrome type I, Cockayne syndrome type a, Cockayne syndrome, type A, ERCC8 Cockayne syndrome, CSA, Cockayne syndrome classic form, Cockayne syndrome classical.
Category: General
Symptoms associated with Cockayne syndrome type 1
The following symptoms have been associated with Cockayne syndrome type 1 in medical literature. Not everyone experiences the same symptoms.
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Dry skin
Skin characterized by the lack of natural or normal moisture....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Hypertension
The presence of chronic increased pressure in the systemic arterial system....
Muscle weakness
Reduced strength of muscles....
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....
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Tests used to investigate Cockayne syndrome type 1
Healthcare providers may order these tests when evaluating Cockayne syndrome type 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 Cockayne syndrome type 1, which is why a clinical evaluation is important.
Alexander disease
Alexander disease is a medical condition that may be associated with various symptoms and signs....
Cockayne syndrome type 2
Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6....
Dursun-Ozgul neurodevelopmental syndrome
Dursun-Ozgul neurodevelopmental syndrome is a medical condition that may be associated with various symptoms a...
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
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...
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities is a medical condition that may...
Frequently Asked Questions
What is Cockayne syndrome type 1?
Cockayne syndrome type 1 is a health condition described in medical literature. Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.
What are the symptoms of Cockayne syndrome type 1?
Cockayne syndrome type 1 is associated with 8 symptoms in the medical literature we index, including Deeply set eye, Dry skin, Failure to thrive, Hypertension, Muscle weakness, Seizure. Symptoms vary widely between individuals.
How is Cockayne syndrome type 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Cockayne syndrome type 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 Cockayne syndrome type 1, please discuss your symptoms with a qualified healthcare provider.