asphyxiating thoracic dystrophy 2

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare inherited disorder that primarily affects the bones. It is characterized by a narrow chest, short ribs, shortened limbs, and other skeletal abnormalities.

• Some people with this condition are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or respiratory distress [1].
• However, in more severe cases, individuals may experience significant respiratory problems due to the narrow chest and short ribs, which can lead to life-threatening complications if not properly managed [2].
• The condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder [3].

It's worth noting that asphyxiating thoracic dystrophy is also known by other names, including Jeune syndrome and short-rib dysplasia. The condition was first described by Jeune et al., and it is associated with short-limbed dwarfism and often involves respiratory problems [4].

Common Signs and Symptoms of Asphyxiating Thoracic Dystrophy

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare genetic disorder that affects the development of the chest and lungs. The signs and symptoms of this condition can vary in severity, but they often include:

• Small Chest and Short Ribs: One of the most distinctive features of asphyxiating thoracic dystrophy is a narrow, small chest and short ribs that restrict the growth and expansion of the lungs.
• Shortened Bones: The bones in the arms and legs are also affected, leading to shortened limbs.
• Extra Fingers and Toes: Some individuals with Jeune syndrome may have extra fingers or toes.
• Unusually Shaped Collarbone and Pelvic Bone: The collarbone and pelvic bone can be abnormally shaped.

These physical characteristics can lead to serious breathing difficulties, as the lungs do not have enough space to expand properly. This can cause:

• Fast Breathing: Individuals with Jeune syndrome may breathe rapidly due to their narrow chest.
• Trouble Breathing: The restricted lung growth and expansion can make it difficult for them to breathe.

It's essential to note that these symptoms can vary in severity, and some individuals may experience more severe respiratory distress than others.

Asphyxiating thoracic dystrophy 2 (ATD2), also known as short-rib thoracic dysplasia with or without polydactyly, is a rare genetic disorder that affects the development of the chest and ribs. Diagnostic tests for ATD2 are crucial in confirming the diagnosis and monitoring the progression of the condition.

Diagnostic Tests:

• Ultrasound imaging: This non-invasive test can detect characteristic features of ATD2, such as short narrow chest with short ribs and mild to moderate rhizomelic limb shortening [3].
• X-rays: X-ray images can reveal skeletal abnormalities, including a "trident" aspect of the acetabula and metaphyseal changes [4].
• Genetic testing: Genetic tests can identify pathogenic variants in the IFT80 gene, which is associated with ATD2 [8]. This test is particularly useful for confirming a diagnosis and identifying carriers.
• Laboratory studies: Urinalysis may be recommended to detect hematuria, proteinuria, or defective urine concentrating capacity, which are common complications of ATD2 [7].
• Pulmonary function tests: These tests can assess severe restrictive lung disease, which is a life-threatening complication of ATD2 [12].

Other Diagnostic Tests:

• MRI findings can also be used to support the diagnosis of ATD2 [14].
• Histology may be performed to detect characteristic features of the condition [13].

It's essential to note that diagnostic tests for ATD2 should only be conducted by qualified healthcare professionals, and a comprehensive evaluation of the patient's medical history, physical examination, and laboratory results is necessary to confirm the diagnosis.

References:

[3] - Feb 2, 2024 — Workup. Laboratory studies recommended in JS include urinalysis (for hematuria, proteinuria, or defective urine concentrating capacity).

[4] - Nov 13, 2023 — Is ideal for patients with a clinical suspicion of asphyxiating thoracic dystrophy or short-rib dysplasia with or without polydactyly.

[7] - Feb 2, 2024 — Workup. Laboratory studies recommended in JS include urinalysis (for hematuria, proteinuria, or defective urine concentrating capacity).

[8] - Nov 13, 2023 — Is ideal for patients with a clinical suspicion of asphyxiating thoracic dystrophy or short-rib dysplasia with or without polydactyly.

[12] - From MedlinePlus Genetics Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath.

Treatment Overview

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare genetic disorder that affects the development of the chest and lungs. While there is no cure for this condition, various treatments can help manage its symptoms and improve quality of life.

• Respiratory Infections: Vigorous treatment of respiratory infections with antibiotics, endotracheal suctioning, and postural drainage is crucial to prevent complications [2].
• Nutritional Support: Nasogastric or gastrostomy feedings may be necessary to ensure proper nutrition, as affected individuals often have difficulty eating and swallowing [2].

Surgical Interventions

In severe cases, surgery may be indicated to prevent progressive pulmonary damage and eventual death. The most commonly used treatment for children with severe Jeune syndrome is the vertical expandable prosthetic titanium rib (VEPTR) surgery [5]. This surgical procedure can help expand the chest cavity and improve lung function.

Other Considerations

It's essential to note that each individual with asphyxiating thoracic dystrophy may require a unique treatment approach, taking into account their specific symptoms and medical history. A multidisciplinary team of healthcare professionals should be involved in developing an effective treatment plan [5].

References: [2] - Feb 2, 2024 [5] - May 1, 2015

Differential Diagnosis of Asphyxiating Thoracic Dystrophy (Jeune Syndrome)

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare genetic disorder characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). When diagnosing this condition, it's essential to consider other skeletal dysplasias that may present with similar symptoms. Here are some differential diagnoses