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Asphyxiating Thoracic Dystrophy 3

Disease Details

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Description: Asphyxiating thoracic dystrophy 3 (ATD3) is a rare genetic disorder characterized by a narrow, bell-shaped chest, short-limbed dwarfism, and a range of additional skeletal and organ anomalies.
Type: Asphyxiating thoracic dystrophy 3 (ATD3) is a type of skeletal dysplasia. The type of genetic transmission for ATD3 is autosomal recessive.
Signs And Symptoms: **Asphyxiating Thoracic Dystrophy 3 (Jeune Syndrome)**

**Signs and Symptoms:**
1. **Respiratory Distress:** Narrow, bell-shaped chest causing difficulty in breathing.
2. **Short Stature:** Delayed growth and short limbs.
3. **Rib Abnormalities:** Shortened and horizontally oriented ribs.
4. **Polydactyly:** Extra fingers or toes.
5. **Renal Problems:** Cystic kidney disease leading to kidney dysfunction.
6. **Liver Issues:** Hepatic fibrosis or related liver abnormalities.
7. **Retinal Dystrophy:** Vision problems due to retinal degeneration.
8. **Dental Anomalies:** Abnormalities in teeth development and structure.

**Notes:**
- Severity of symptoms can vary significantly between individuals.
- Prompt medical attention and ongoing care are crucial for disease management.
Prognosis: Asphyxiating Thoracic Dystrophy 3 (also known as Jeune Syndrome) is a rare genetic disorder characterized by a narrow, bell-shaped chest, which can cause respiratory difficulties. The prognosis varies widely among individuals. Some may experience severe respiratory complications that can be life-threatening, especially in infancy and early childhood. Others may have milder symptoms and live into adulthood. The severity of the associated skeletal abnormalities and potential complications, such as kidney or liver problems, also affect the overall prognosis. Early intervention and supportive treatments can improve outcomes for affected individuals.
Onset: Asphyxiating thoracic dystrophy 3 (ATD3), also known as Jeune syndrome, typically has its onset during infancy or early childhood.
Prevalence: The prevalence of Asphyxiating Thoracic Dystrophy 3 (ATD3) is not well defined, but it is considered a rare genetic disorder. Specific prevalence data are not available, and it typically occurs in less than one in every 100,000 to 130,000 live births.
Epidemiology: Asphyxiating thoracic dystrophy 3 (ATD3), also known as Jeune syndrome, is a rare genetic disorder. Its exact epidemiology is not well-documented due to its rarity, but it is inherited in an autosomal recessive manner. The prevalence is estimated to be between 1 in 100,000 to 1 in 130,000 live births. Cases have been reported globally, without a specific geographic, racial, or ethnic predilection. The disorder can lead to a reduced thoracic cavity, which can cause respiratory insufficiency and other complications.
Intractability: Asphyxiating thoracic dystrophy 3, also known as Jeune syndrome, is generally considered intractable in the sense that there is no cure for the condition. It is a rare genetic disorder that primarily affects the development of the rib cage, leading to respiratory difficulties, among other complications. Management focuses on symptomatic treatment and supportive care, including respiratory support and potentially surgical interventions to alleviate breathing difficulties.
Disease Severity: Asphyxiating thoracic dystrophy 3, also known as Jeune syndrome, is a genetic disorder that primarily affects the development of the thoracic (chest) region. Regarding disease severity, it can range widely from mild to severe, with severe cases potentially leading to life-threatening respiratory issues due to a constricted thoracic cavity. The condition can also be associated with abnormalities in other bones and organs. Severity largely depends on the extent of thoracic restriction and associated complications.
Healthcare Professionals: Disease Ontology ID - DOID:0110087
Pathophysiology: Asphyxiating thoracic dystrophy 3, also known as Jeune syndrome type 3, is a rare genetic disorder primarily affecting the development of the skeleton. The central feature is a narrow, bell-shaped thorax that restricts proper lung development and breathing. This condition can also involve short-limbed dwarfism, polydactyly (extra fingers or toes), and abnormalities in the kidneys, liver, and retinas. The disorder follows an autosomal recessive inheritance pattern and is attributed to mutations in specific genes like IFT80, which play a role in intraflagellar transport, crucial for cilia function.

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Carrier Status: Asphyxiating thoracic dystrophy 3 is a genetic disorder. Carrier status for this condition typically means that an individual has one mutated copy of the gene associated with the disorder but does not show symptoms. The condition usually follows an autosomal recessive inheritance pattern, meaning two copies of the mutated gene (one from each parent) are required for an individual to manifest the disease.
Mechanism: Asphyxiating thoracic dystrophy 3 (ATD3), also known as Jeune syndrome, is a rare genetic disorder characterized by skeletal abnormalities, particularly affecting the chest, ribs, and limbs. Below are details about the mechanism and molecular mechanisms of ATD3:

**Mechanism:**
- **Skeletal Malformations:** ATD3 leads to a narrow, bell-shaped thorax, short ribs, and other skeletal deformities, which can cause respiratory insufficiency and difficulty in breathing. These skeletal abnormalities can be life-threatening, particularly in infancy.
- **Respiratory Complications:** The primary concern is the compromised lung development and reduced pulmonary function due to the restricted chest cavity, which can result in severe respiratory distress.

**Molecular Mechanisms:**
- **Genetic Mutations:** ATD3 is primarily caused by mutations in the TCTN1 gene. This gene is involved in the regulation of ciliogenesis, which is the formation and function of cellular cilia.
- **Ciliary Dysfunction:** Mutations in TCTN1 disrupt normal cilia function. Cilia are important for various signaling pathways during development, including the Hedgehog signaling pathway, which plays a crucial role in the development and patterning of limbs and the axial skeleton.
- **Impaired Signaling Pathways:** Abnormal ciliogenesis affects signaling pathways like Hedgehog, which are critical for normal skeletal development. This leads to the characteristic skeletal anomalies seen in ATD3.

Genetic testing and molecular analysis are essential for diagnosing and understanding the specific mutations involved in ATD3. Treatment often focuses on managing respiratory distress and supportive care for skeletal deformities.
Treatment: Asphyxiating thoracic dystrophy 3 (ATD3), also known as Jeune syndrome, is a rare genetic disorder that primarily affects the development of the thoracic rib cage, leading to restrictive pulmonary disease. Management and treatment strategies typically aim to address the respiratory complications and other associated symptoms. Here are the main approaches:

1. **Respiratory Support**: This may include supplemental oxygen, non-invasive ventilation, or mechanical ventilation in severe cases to help with breathing difficulties.

2. **Surgical Interventions**: Thoracic expansion surgery or other surgical procedures may be required to increase the size of the chest cavity and improve respiratory function.

3. **Monitoring and Managing Complications**: Regular monitoring for complications such as renal (kidney) problems, liver issues, and skeletal abnormalities. Treatment may involve a multidisciplinary team to manage and address these issues as they arise.

4. **Physical Therapy and Rehabilitation**: These may help improve overall respiratory function and mobility.

5. **Genetic Counseling**: Family members may benefit from genetic counseling to understand the inheritance pattern and implications for future pregnancies.

There is no definitive cure, so treatment focuses on managing symptoms and improving quality of life.
Compassionate Use Treatment: Asphyxiating thoracic dystrophy 3 (often referred to as Jeune syndrome type 3) is a rare genetic disorder characterized by skeletal abnormalities, particularly of the thorax, which can cause respiratory compromise. Due to its rarity, there is limited specific information on compassionate use or off-label treatments. However, management of the condition usually focuses on addressing its symptoms, particularly respiratory issues.

1. **Compassionate Use Treatments**:
- These are typically considered for patients who have exhausted all other treatment options. For Jeune syndrome type 3, compassionate use might involve specialized respiratory support or interventions to manage secondary complications.

2. **Off-label or Experimental Treatments**:
- **Respiratory Support**: Off-label use of non-invasive ventilation (like CPAP or BiPAP) might be considered to help manage respiratory distress.
- **Surgical Interventions**: Thoracic surgery, including rib expansion techniques or insertion of vertical expandable prosthetic titanium ribs (VEPTR), though originally designed for other conditions, might be used experimentally to improve thoracic volume and respiratory function.
- **Bone-targeted Therapies**: Medications like bisphosphonates, originally used for other skeletal disorders, might be used off-label to manage bone abnormalities.
- **Genetic Therapies**: Experimental gene therapies targeting the underlying genetic defects causing thoracic dystrophy are a potential area of future research, though as of now, they are not established treatments.

Patients considering these options should closely collaborate with a multidisciplinary team familiar with Jeune syndrome to determine the most appropriate and safe course of action.
Lifestyle Recommendations: For individuals diagnosed with Asphyxiating Thoracic Dystrophy Type 3, also known as Jeune Syndrome, lifestyle recommendations would generally focus on managing symptoms and improving quality of life. These recommendations include:

1. **Regular Medical Follow-ups**: Regular check-ups with a healthcare provider, including specialists such as pulmonologists and orthopedic surgeons, to monitor and manage respiratory and skeletal abnormalities.

2. **Respiratory Support**: Since respiratory issues are common, use of appropriate respiratory support such as CPAP (Continuous Positive Airway Pressure) devices or other interventions as recommended by a healthcare provider.

3. **Physical Therapy**: Engage in physical therapy to help maintain mobility and manage any skeletal abnormalities.

4. **Adequate Nutrition**: Ensure proper nutrition to support overall health and development, which can often be monitored by a dietitian.

5. **Adaptive Equipment**: Use of adaptive equipment or modifications at home and school to assist with daily activities and enhance mobility.

6. **Avoiding Respiratory Irritants**: Avoid exposure to respiratory irritants such as smoke and allergens that can exacerbate breathing problems.

7. **Safe Physical Activity**: Engage in low-impact physical activities as tolerated to maintain fitness without putting excessive strain on the chest and respiratory system.

8. **Emotional and Psychological Support**: Utilize counseling and support groups for emotional and psychological well-being of both the patient and family members.

These recommendations should be tailored to individual needs and done under medical guidance.
Medication: Asphyxiating thoracic dystrophy 3, also known as Jeune syndrome, is primarily managed through supportive care rather than specific medications. Treatment typically focuses on managing respiratory complications, nutritional support, and monitoring for potential kidney or liver issues. In severe cases, surgical interventions such as thoracic expansion might be necessary to improve breathing. Always consult healthcare providers for personalized medical advice.
Repurposable Drugs: Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare genetic disorder. There are currently no specific repurposable drugs approved for treating Asphyxiating Thoracic Dystrophy 3 (ATD3). Management of the condition typically focuses on symptomatic treatment and supportive care, including respiratory support, surgical interventions to relieve thoracic constriction, and addressing associated organ involvement. Given its rarity and complexity, experimental treatments or repurposing existing drugs would likely require further research and clinical trials. Always consult a medical professional for the most up-to-date treatment options.
Metabolites: Asphyxiating thoracic dystrophy 3, also known as Jeune syndrome, is a genetic disorder that primarily affects the development of the thoracic cage. It is caused by mutations in specific genes such as IFT140. Information about the metabolites directly associated with this condition is limited. Primarily, the disorder impacts physical development rather than metabolic pathways. Please note that "nan" might indicate that there is no available information on specific metabolites for this condition.
Nutraceuticals: Asphyxiating thoracic dystrophy 3 (ATD3), also known as Jeune syndrome, is a genetic disorder that affects the development of the thoracic cage. Common treatments focus on managing symptoms and complications rather than curing the condition. Currently, there is no known direct nutraceutical treatment that can address the underlying genetic causes of ATD3. Supportive nutritional therapy may be considered to improve overall health, but specific nutraceuticals are not a recognized treatment for this disorder. Consulting with a healthcare provider is crucial for appropriate management and care.
Peptides: Asphyxiating thoracic dystrophy 3 (ATD3), also known as Jeune syndrome, is a genetic disorder characterized by skeletal abnormalities, particularly a narrow chest which can lead to respiratory difficulties. This condition falls under the category of ciliopathies, which are disorders related to the dysfunction of cellular structures called cilia.

"Peptides, nan" likely refers to research or therapeutic approaches involving peptides at a nanoscale level. While detailed specifics on such advanced therapeutic approaches directly for ATD3 might be limited, peptide-based and nanotechnology-based therapeutics are generally areas of active research in genetic and molecular medicine. These may involve using peptides to target specific cellular pathways or using nanotechnology to deliver drugs more precisely to affected tissues. Further research is necessary to explore these potential treatments for ATD3.