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Ogden syndrome
ICD-10 Codes
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Description
Ogden Syndrome Description
Ogden syndrome, also known as N-terminal acetyltransferase deficiency, is a rare genetic disorder that affects various aspects of an individual's development and growth.
- Physical Characteristics: Individuals with Ogden syndrome often exhibit distinctive craniofacial features that give them an aged appearance [3]. This can include features such as a flat face, prominent forehead, and underdeveloped facial bones.
- Growth Failure: One of the hallmark symptoms of Ogden syndrome is postnatal growth failure, which means that affected individuals fail to grow at a normal rate after birth [8].
- Developmental Delay: Individuals with Ogden syndrome often experience severe global developmental delay, which can manifest as delayed speech and language skills, delayed motor skills, and other cognitive impairments [5][6].
- Variable Phenotype: The symptoms of Ogden syndrome can vary widely from one individual to another, even within the same family [9].
Overall, Ogden syndrome is a rare and complex genetic disorder that affects multiple aspects of an individual's development and growth.
References:
[3] - A distinct combination of distinctive craniofacial features producing an aged appearance, growth failure, hypotonia [5] - severe global developmental delay [6] - severe global developmental delay [8] - postnatal growth failure, severely delayed psychomotor development [9] - X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable phenotype
Additional Characteristics
- Ogden syndrome
- N-terminal acetyltransferase deficiency
- flat face
- prominent forehead
- underdeveloped facial bones
- postnatal growth failure
- severe global developmental delay
- delayed speech and language skills
- delayed motor skills
- cognitive impairments
Signs and Symptoms
Ogden Syndrome: A Rare Genetic Disorder
Ogden syndrome, also known as N-terminal acetyltransferase deficiency (NATD), is a rare X-linked disorder that affects infants and young children. The condition is characterized by a distinct combination of physical features and developmental delays.
Physical Features:
- Distinctive craniofacial features producing an aged appearance
- Growth failure
- Hypotonia (low muscle tone)
- Cryptorchidism (undescended testes)
Developmental Delays:
- Global developmental delays, affecting cognitive, motor, and language skills
- Severe growth delay
Cardiac Arrhythmias:
- Spontaneous cardiac arrhythmias are a common feature of Ogden syndrome
Other Symptoms:
- Skeletal anomalies
- Non-specific dysmorphic facies (abnormal facial features)
According to [13], the first family with Ogden syndrome was identified in Ogden, Utah, with five affected individuals. The condition is extremely rare and affects males more frequently than females.
The symptoms of Ogden syndrome can vary in severity and may not be present at birth. In some cases, growth delay and developmental delays may become apparent during early childhood [15].
References:
- [13] - Identified the first family with Ogden syndrome
- [15] - Described the variable phenotype and age of onset for Ogden syndrome
Additional Symptoms
- Growth failure
- Hypotonia (low muscle tone)
- Skeletal anomalies
- Distinctive craniofacial features producing an aged appearance
- Cryptorchidism (undescended testes)
- Global developmental delays, affecting cognitive, motor, and language skills
- Severe growth delay
- Spontaneous cardiac arrhythmias
- Non-specific dysmorphic facies (abnormal facial features)
Diagnostic Tests
Diagnostic Tests for Ogden Syndrome
Ogden syndrome, a rare genetic progeroid syndrome, requires accurate diagnosis to provide appropriate care and management. The following diagnostic tests are used to diagnose Ogden syndrome:
- Molecular Genetics: Sequence analysis of the entire coding region using Next-Generation (NGS)/Massively parallel sequencing (MPS) is performed to identify mutations in the NAA10 gene [1][3].
- Electrocardiogram (ECG): A standard ECG is performed at various ages, including 2 weeks and 4 months, to assess cardiac function [3].
- Cardiac Ultrasound: Cardiac ultrasound may be performed before surgery to evaluate cardiac function [8].
These diagnostic tests are essential for accurate diagnosis and management of Ogden syndrome. Early detection and intervention can improve patient outcomes.
References:
[1] Gogoll L (2021) - Following the molecular diagnosis of Ogden syndrome, a standard electrocardiogram was performed at the ages of 2 weeks and 4 months which ... [3] Gogoll L (2021) - Following the molecular diagnosis of Ogden syndrome, a standard electrocardiogram was performed at the ages of 2 weeks and 4 months which ... [8] Li F (2024) - Cardiac ultrasound before surgery. Clinical diagnosis included Ogden syndrome, congenital heart disease (obstructive hypertrophic ...
Additional Diagnostic Tests
- Electrocardiogram (ECG)
- Molecular Genetics
- Cardiac Ultrasound
Treatment
Treatment Options for Ogden Syndrome
Ogden syndrome, a rare genetic progeroid syndrome, requires symptomatic and supportive treatment approaches. The primary goal is to manage the symptoms and improve the quality of life for affected individuals.
- Medications: Drug therapy with beta-blockers and non-dihydropyridine calcium channel blockers is often used to reduce heart rate and mitigate cardiac arrhythmias [2]. However, there are no specific medications that can slow down or modify the progression of Ogden syndrome.
- Supportive Care: Treatment for Ogden syndrome is largely focused on managing its symptoms. This may include supportive care measures such as physical therapy, occupational therapy, and speech therapy to address developmental delays and other related issues [9].
- Surgical Interventions: In some cases, surgical interventions may be necessary to address cardiac-related complications or other associated anomalies. Early surgery should be performed if drug treatment is ineffective [1].
Current Research and Development
Researchers are actively exploring potential treatments for Ogden syndrome, including medications that can amplify the NAA10 protein, which is deficient in individuals with this condition [4, 7]. These efforts aim to develop targeted therapies that can improve symptoms and potentially slow down disease progression.
Key Takeaways
- Symptomatic and supportive treatment approaches are currently used to manage Ogden syndrome.
- Medications such as beta-blockers and calcium channel blockers may be prescribed to address cardiac-related issues.
- Surgical interventions may be necessary in some cases, particularly if drug treatment is ineffective.
- Ongoing research focuses on developing targeted therapies that can improve symptoms and potentially slow down disease progression.
References:
[1] The case emphasizes the HCM of Ogden syndrome, and early surgery should be performed if drug treatment is ineffective. NAA10 gene related Ogden syndrome with obstructive hypertrophic cardiomyopathy: A rare case report Medicine (Baltimore ...
[2] by F Li · 2024 — Drug therapy with beta-blockers and non-dihydropyridine calcium channel blockers is the primary approach for reducing heart rate and mitigating ...
[4] Specifically, Rarebase is looking for a medication that amplifies the NAA10 protein, which is the deficient protein that causes the symptoms of Ogden Syndrome ...
[7] Apr 11, 2023 — Specifically, Rarebase is looking for a medication that amplifies the NAA10 protein, which is the deficient protein that causes the symptoms of ...
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Understanding Differential Diagnosis in Medical Contexts
Differential diagnosis refers to the process of identifying and ruling out other possible causes of a patient's symptoms, in order to arrive at an accurate diagnosis. In the context of Ogden syndrome, differential diagnosis is crucial for distinguishing it from other rare genetic disorders that may present with similar symptoms.
Key Considerations in Differential Diagnosis
- Postnatal growth failure: This symptom can be indicative of various genetic conditions, including Ogden syndrome.
- Severely delayed psychomotor development: This symptom is a hallmark of Ogden syndrome, but it can also be seen in other neurodevelopmental disorders.
- Facial dysmorphisms: These physical abnormalities can be present in individuals with Ogden syndrome, but they can also occur in other genetic conditions.
Differential Diagnosis for Ogden Syndrome
Based on the search results, the following conditions may need to be considered in the differential diagnosis of Ogden syndrome:
- NAA10-related syndrome: This X-linked condition presents with a broad spectrum of findings, including severe phenotype in males with p.Ser37Pro in NAA10.
- Epilepsy and intellectual disability: These symptoms can be present in individuals with Ogden syndrome, but they can also occur in other genetic conditions.
Importance of Accurate Differential Diagnosis
Accurate differential diagnosis is essential for providing appropriate treatment and management strategies for patients with Ogden syndrome. By ruling out other possible causes of a patient's symptoms, healthcare providers can ensure that the correct diagnosis is made, and the most effective treatment plan is implemented.
References:
- [1] by Y Wu · 2018 · Cited by 54 — NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10.
- [5] Ogden syndrome is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable ...
- [9] Oct 30, 2024 — There is a need to include Ogden Syndrome in differential diagnoses and investigate the NAA10 gene in epilepsy and intellectual disability ...
Additional Differential Diagnoses
- N syndrome
- Epilepsy and intellectual disability
Additional Information
- relatedICD
- http://example.org/icd10/Q80.4
- oboInOwl#hasOBONamespace
- disease_ontology
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- 2013-07-17T10:18:00Z
- oboInOwl#id
- DOID:0050781
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- ORDO:276432
- IAO_0000115
- A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28.
- oboInOwl#hasExactSynonym
- X-linked Malformation and Infantile Lethality Syndrome
- oboInOwl#inSubset
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- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000936
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- Ogden syndrome
- rdf-schema#subClassOf
- t332733
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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