asphyxiating thoracic dystrophy 3

Asphyxiating Thoracic Dystrophy (ATD) 3, also known as Jeune syndrome, is a rare autosomal recessive ciliopathy characterized by multiple skeleto-muscular abnormalities. The clinical features of ATD 3 include:

• Abnormality of the head or neck
• Bifid tongue
• Abnormality of limbs, including absent tibia
• Abnormality of the digestive system, such as hamartoma of the tongue

ATD 3 is caused by homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. This genetic mutation affects the development of the bone structure of the chest (thorax) and leads to a narrow thorax, short limbs, and radiological skeletal abnormalities.

The symptoms of ATD 3 can vary in severity and may include respiratory problems due to the narrow thorax, as well as other complications related to the skeletal and muscular abnormalities. It is essential for individuals with ATD 3 to receive proper medical attention and care to manage their condition effectively.

References: * [1] Clinical resource with information about Asphyxiating thoracic dystrophy 3 and its clinical features * [6] An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. * [7] Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities.

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, presents with a range of severe symptoms in its more severe forms.

• Narrow, immobile chest: In the most severe cases, patients are born with a narrow and immobile chest, which restricts the growth and expansion of the lungs.
• Short ribs and limbs: The condition is characterized by short ribs and limbs, which can lead to serious breathing difficulties.
• Characteristic radiographic changes: Patients may exhibit characteristic radiographic changes, indicating abnormal bone growth.

These symptoms are often present at birth and can have a significant impact on an individual's quality of life. It's essential for medical professionals to diagnose the condition promptly and provide appropriate care.

References: [3] - In the more severe forms, patients present at birth with a narrow, immobile chest; short ribs and limbs; and characteristic radiographic changes. [4] - Common signs and symptoms include a small chest and short ribs which restrict the growth and expansion of the lungs, often causing serious breathing difficulties. [5] - Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, ...

Asphyxiating thoracic dystrophy 3 (ATD3) is a rare genetic disorder that affects the development of the chest and ribcage. Diagnostic tests for ATD3 are crucial in confirming the diagnosis and ruling out other conditions.

Genetic Testing Genetic testing can confirm the presence of mutations in the DYNC2H1 gene, which is responsible for ATD3. This test involves analyzing a DNA sample from the individual or their family members to identify any genetic abnormalities (Source: [1], [5]).

Imaging Studies Imaging studies such as X-rays and ultrasounds can help diagnose ATD3 by revealing characteristic features of the condition, including short ribs and a narrow chest. These tests can be performed prenatally or postnatally to confirm the diagnosis (Source: [4], [14]).

Other Diagnostic Tests Additional diagnostic tests may include:

• Urinalysis to detect hematuria, proteinuria, and defective urine concentrating capacity (Source: [9])
• Arterial blood gas (ABG) sampling to assess oxygenation and ventilation status
• Pulmonary function testing to evaluate lung function and detect restrictive lung disease

Multidisciplinary Approach A multidisciplinary approach involving geneticists, radiologists, and other specialists is essential for accurate diagnosis and management of ATD3.

References:

[1] GTR Test ID Help (Source: [2]) [4] Clinical features of Jeune syndrome (Source: [4]) [9] Workup for Jeune syndrome (Source: [9]) [14] Early prenatal diagnosis of asphyxiating thoracic dystrophy (Jeune’s syndrome) (Source: [14])

Drug Treatment for Asphyxiating Thoracic Dystrophy

According to available information, drug therapy is not currently a component of the standard of care for asphyxiating thoracic dystrophy [4]. This means that medication is not typically used to treat this condition.

However, it's essential to note that treatment plans are often tailored to individual needs and may involve a multidisciplinary approach. In some cases, medications might be prescribed to manage related symptoms or complications, but they would not be the primary treatment for asphyxiating thoracic dystrophy itself.

If you have any further questions or concerns about this topic, please feel free to ask!

The differential diagnosis for Asphyxiating Thoracic Dystrophy (ATD) includes several conditions that present with similar clinical features.

• Thoracolaryngopelvic dysplasia: This is a rare congenital disorder characterized by the abnormal development of the thorax, larynx, and pelvis. It can cause respiratory distress and other complications.
• Ellis-van Creveld syndrome: Also known as short-limbed dwarfism, this genetic disorder affects bone growth and can lead to skeletal abnormalities, including a narrow chest.
• Sensenbrenner syndrome: This is a rare genetic disorder that affects the development of bones and cartilage. It can cause a range of skeletal abnormalities, including a narrow thorax.
• Paternal uniparental disomy of chromosome 14: This is a rare genetic condition where an individual inherits two copies of chromosome 14 from their father, leading to various developmental abnormalities.

These conditions should be considered in the differential diagnosis for Asphyxiating Thoracic Dystrophy, as they can present with similar clinical features. [3][5][7]