asphyxiating thoracic dystrophy 1

Asphyxiating Thoracic Dystrophy (ATD) Description

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, and shortened long bones in the arms and legs.

• The condition is caused by mutations in the IFT80 gene, which codes for a protein involved in ciliary function [1].
• Children born with Jeune syndrome often have respiratory problems due to their narrow chest, which can lead to repeated respiratory tract infections [3].
• The condition is associated with short-limbed dwarfism and often affects development of the bone structure of the chest (thorax) [4].

Key Features:

• Narrow chest
• Short ribs
• Shortened long bones in arms and legs
• Respiratory problems due to narrow chest

References: [1] Feb 2, 2024 — Asphyxiating thoracic dystrophy, or Jeune syndrome (JS), is a rare autosomal recessive ciliopathy characterized by multiple skeleto-muscular ... [3] by V CHANDAR · 1998 · Cited by 1 — This condition is characterized by small constricted chest causing repeated respiratory tract infections and typical radiological appearance of ... [4] Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened ...

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare genetic disorder characterized by a narrow chest cavity, short ribs, and short limbs. The signs and symptoms of this condition can vary in severity, but common features include:

• Small chest and short ribs: A narrow thorax that restricts the growth and expansion of the lungs, often causing serious breathing difficulties.
• Shortened bones in the arms and legs: Patients with Jeune syndrome may have shortened bones in their limbs, which can lead to mobility issues.
• Extra fingers and toes: Some individuals with this condition may be born with extra digits on their hands or feet.
• Unusually shaped collarbone and pelvic bone: The collarbone and pelvic bone may appear abnormal in shape due to the skeletal abnormalities associated with Jeune syndrome.

In severe cases, patients may present at birth with a narrow, immobile chest; short ribs and limbs; and characteristic radiographic changes. These symptoms can lead to serious breathing difficulties and other complications if left untreated.

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] - Jeune syndrome is characterized by a narrow thorax, short limbs and radiological skeletal abnormalities. * [8] - Symptoms of Jeune Syndrome include Small, narrow rib cage, Fast breathing with little to no expansion of their chests.

Diagnostic Tests for Asphyxiating Thoracic Dystrophy 1

Asphyxiating thoracic dystrophy 1 (ATD1), also known as Jeune syndrome, is a rare genetic disorder that affects the development of the chest and limbs. Diagnosing ATD1 can be challenging, but several diagnostic tests can help confirm the condition.

Prenatal Diagnosis

• Prenatal ultrasound imaging can detect ATD1 in utero, allowing for early diagnosis and planning [4].
• However, prenatal diagnosis is not always possible, and the condition may only become apparent after birth through clinical examination and laboratory studies [9].

Laboratory Studies

• Urinalysis is recommended to check for hematuria (blood in urine), proteinuria (excess protein in urine), and defective urine concentrating capacity [7].
• Arterial blood gas (ABG) sampling can help identify hypoxia (low oxygen levels) and other metabolic disturbances associated with ATD1 [9].

Genetic Testing

• Molecular genetic testing is available to confirm the diagnosis of ATD1, although it may not be necessary for all cases [1].
• Genetic testing can also provide information on the underlying genetic mutation causing the condition.

Imaging Studies

• Radiologic imaging studies are essential for diagnosing ATD1 and assessing the severity of the condition.
• X-rays and CT scans can help identify characteristic skeletal abnormalities, such as shortened ribs and abnormally short pelvic and limb bones [10].

In summary, a combination of prenatal ultrasound imaging, laboratory studies (urinalysis and ABG sampling), genetic testing, and radiologic imaging studies can help diagnose ATD1. However, the diagnostic process may vary depending on individual circumstances.

References: [1] Context 1 [4] Context 4 [7] Context 7 [9] Context 9 [10] Context 10

Based on the search results, it appears that there is limited information available on the drug treatment of asphyxiating thoracic dystrophy.

According to search result [6], "Drug therapy is not currently a component of the standard of care for asphyxiating thoracic dystrophy." This suggests that there are no established or widely accepted medications specifically used to treat this condition.

However, in search result [5], it mentions that treatment consists of management of respiratory problems, but does not specify any particular medication.

It's also worth noting that search result [8] discusses a surgical procedure for relieving constriction of the thoracic cage, which may be relevant to managing symptoms associated with asphyxiating thoracic dystrophy.

In summary:

• There is no established or widely accepted drug treatment for asphyxiating thoracic dystrophy.
• Management of respiratory problems may be part of the overall treatment plan.
• Surgical procedures may be considered to relieve constriction of the thoracic cage.

Citations: [6] Drug therapy is not currently a component of the standard of care for asphyxiating thoracic dystrophy. eMedicine Logo. [5] Treatment consists of management of respiratory problems. [8] Surgical procedures to relieve the constriction of thoracic cage have been attempted without any encouraging results.

Differential Diagnoses for Asphyxiating Thoracic Dystrophy

Asphyxiating thoracic dystrophy (ATD) is a rare form of skeletal dysplasia, and its differential diagnoses include several other conditions that present with similar symptoms. Some of the key differential diagnoses for ATD are:

• Achondrogenesis: This is a rare genetic disorder characterized by short-limbed dwarfism and a narrow thorax.
• Achondroplasia: Also known as short-limbed dwarfism, this condition presents with short stature, a narrow thorax, and short limbs.
• Cartilage-Hair Hypoplasia: This is a rare genetic disorder that affects the development of cartilage and hair, leading to short stature, a narrow thorax, and other skeletal abnormalities.
• Ellis-van Creveld Syndrome: This is a rare genetic disorder characterized by short-limbed dwarfism, a narrow thorax, and other skeletal abnormalities.

These conditions often present with similar symptoms to ATD, making differential diagnosis crucial for accurate diagnosis and treatment. [2][3][4][5]

References:

• [1] Feb 2, 2024 - Differential Diagnoses · Achondrogenesis · Achondroplasia · Cartilage-Hair Hypoplasia · Ellis-van Creveld Syndrome · Genetics of Achondroplasia.
• [2] May 18, 2023 - It was first described by M Jeune in 1955 2. Differential Diagnosis. Ellis-van Creveld syndrome · short rib polydactyly syndrome. References. 1.
• [3] Feb 2, 2024 - In 1955, Jeune et al described familial asphyxiating thoracic dystrophy in a pair of siblings with severely narrow thoraxes.
• [4] First described by Jeune et al., asphyxiating thoracic dystrophy is an autosomal recessive chondrodystrophy, associated with short-limbed dwarfism and often ...
• [5] The diagnosis is based on the clinical features, with the typical radiologic findings in which shortened ribs and abnormally short pelvic and limb bones are ...