Ogden syndrome
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
Also known as: N-terminal acetyltransferase deficiency, OGDNS, Ogden syndrome, Ogden syndrome, X-linked recessive, X-linked dominant, premature ageing appearance-developmental delay-cardiac arrhythmia syndrome, premature aging appearance-developmental delay-cardiac arrhythmia syndrome, Acetyl-CoA:arylamine n-acetyltransferase, N acetyltransferase 1 deficiency, N acetyltransferase deficiency, NAT1 deficiency.
Category: General
Symptoms associated with Ogden syndrome
The following symptoms have been associated with Ogden syndrome in medical literature. Not everyone experiences the same symptoms.
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Dysphagia
Difficulty in swallowing....
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
Jaundice
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentra...
Lymphedema
Localized fluid retention and tissue swelling caused by a compromised lymphatic system....
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate Ogden syndrome
Healthcare providers may order these tests when evaluating Ogden 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 Ogden syndrome, which is why a clinical evaluation is important.
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developmental and epileptic encephalopathy 119
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mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
Frequently Asked Questions
What is Ogden syndrome?
Ogden syndrome is a health condition described in medical literature. Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
What are the symptoms of Ogden syndrome?
Ogden syndrome is associated with 8 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Deeply set eye, Diarrhea, Dysphagia, Generalized-onset seizure, Jaundice. Symptoms vary widely between individuals.
How is Ogden syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Ogden 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 Ogden syndrome, please discuss your symptoms with a qualified healthcare provider.