asphyxiating thoracic dystrophy 5

Asphyxiating Thoracic Dystrophy (ATD) Description

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare autosomal recessive skeletal dysplasia with multi-organ involvement [5]. This condition primarily affects the development of the bone structure of the chest (thorax), leading to a narrow thorax and short limbs [1][2].

Key Features:

• Narrow thorax
• Shortened ribs
• Shortened limbs
• Multi-organ involvement

Inheritance Pattern: Asphyxiating thoracic dystrophy is inherited in an autosomal recessive manner, meaning that the condition occurs when a person inherits two copies of the mutated gene (one from each parent) [5].

Note: The information provided above is based on search result 5 and citations [1][2] are used to refer to other relevant search results.

Common Signs and Symptoms of Asphyxiating Thoracic Dystrophy (ATD)

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare genetic condition that affects the development of the rib cage and lungs. The following are some common signs and symptoms associated with ATD:

• Small chest and short ribs: One of the hallmark features of ATD is a narrow and short chest cavity that restricts lung expansion.
• Respiratory distress: Infants born with ATD may experience serious breathing difficulties due to the small thoracic cavity, which can lead to respiratory distress.
• Trouble breathing: The restricted growth and expansion of the lungs make it difficult for individuals with ATD to breathe properly.

These symptoms are often present at birth or shortly thereafter. If left untreated, ATD can be life-threatening. However, early diagnosis and treatment can significantly improve survival rates and quality of life for those affected by this condition.

References:

• [5] Jeune syndrome (asphyxiating thoracic dystrophy - ATD) is a rare, genetic condition in which children have a narrow and short chest cavity that restricts lung expansion, making breathing difficult.
• [6] Common signs and symptoms include a small chest and short ribs which restrict the growth and expansion of the lungs, often causing serious breathing ...
• [8] Symptoms of Jeune Syndrome · Small, narrow rib cage · Fast breathing with little to no expansion of their chests. · Trouble breathing because their lungs haven't ...

Diagnostic Tests for Asphyxiating Thoracic Dystrophy

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, can be diagnosed through various tests and examinations.

• Prenatal Ultrasound: Jeune syndrome may be detected prenatally through ultrasound imaging [4].
• Postnatal Diagnosis: The condition is often diagnosed after birth through clinical examination, which reveals a narrow chest, short limbs, and characteristic skeletal abnormalities [2][5].
• Laboratory Studies: Laboratory studies are recommended to identify associated conditions, such as kidney problems (hematuria, proteinuria, defective urine concentrating capacity) and respiratory issues (hypoxia). These tests include:
  • Urinalysis
  • Arterial blood gas (ABG) sampling
  • Other laboratory tests may be ordered based on individual patient needs [6][10].
• Genetic Testing: Molecular genetic testing is available to confirm the diagnosis of Jeune syndrome. This test can identify alterations in the genomic regions that include one whole gene, such as deletion/duplication analysis using buccal swab specimens and whole blood samples [7][8].

These diagnostic tests help healthcare professionals diagnose asphyxiating thoracic dystrophy and provide a comprehensive understanding of the condition.

References: [2] May 1, 2015 — Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, ... [4] Testing and diagnosis for Jeune syndrome​​ Jeune syndrome may be detected prenatally through ultrasound imaging. More often, it is diagnosed after birth through ... [5] Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal ... [6] Feb 2, 2024 — Workup. Laboratory studies recommended in JS include urinalysis (for hematuria, proteinuria, defective urine concentrating capacity) and ... [7] Diagnosis (26); Pre-symptomatic (5) ... Tests names and labs, Conditions, Genes ... JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY). [8] If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood ... [10] Feb 2, 2024 — Laboratory Studies · Urinalysis. Hematuria. Proteinuria. Defective urine concentrating capacity · Arterial blood gas (ABG) sampling: Hypoxia and ...

Current Status of Drug Treatment for Asphyxiating Thoracic Dystrophy

According to the available information, drug therapy is not currently a component of the standard of care for asphyxiating thoracic dystrophy. This means that there are no approved medications specifically designed to treat this condition.

• No specific treatment: The current medical understanding does not include any specific drugs or medication regimens tailored to address the symptoms and underlying causes of asphyxiating thoracic dystrophy.
• Limited therapeutic options: As a result, patients with this condition often rely on supportive care measures, such as respiratory management and physical therapy, to alleviate their symptoms and improve quality of life.

References

[6] Medication Summary. Drug therapy is not currently a component of the standard of care for asphyxiating thoracic dystrophy.

Differential Diagnosis of Asphyxiating Thoracic Dystrophy

Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare autosomal recessive ciliopathy characterized by multiple skeleto-muscular abnormalities. When considering the differential diagnosis for ATD, several conditions should be taken into account.

• Ellis-van Creveld syndrome: This is a genetic disorder that affects the development of bones and cartilage, leading to short-limbed dwarfism and other skeletal abnormalities.
• Short rib polydactyly syndrome: This condition is characterized by short ribs, polydactyly (extra fingers or toes), and other skeletal anomalies.

These conditions share some similarities with ATD in terms of their skeletal manifestations. However, they can be distinguished from ATD based on specific clinical features and diagnostic criteria.

• Ellis-van Creveld syndrome is typically associated with short-limbed dwarfism, polydactyly, and other skeletal abnormalities, but it does not involve the same degree of thoracic dystrophy as seen in ATD.
• Short rib polydactyly syndrome, on the other hand, is characterized by short ribs, polydactyly, and other skeletal anomalies, which can be similar to those seen in ATD. However, the two conditions have distinct diagnostic criteria and clinical features.

In summary, when considering the differential diagnosis for asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld syndrome and short rib polydactyly syndrome should be taken into account due to their similar skeletal manifestations. However, these conditions can be distinguished from ATD based on specific clinical features and diagnostic criteria.

References:

• [5] May 18, 2023 — Differential Diagnosis · Ellis-van Creveld syndrome · short rib polydactyly syndrome ...