asphyxiating thoracic dystrophy

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare autosomal recessive ciliopathy characterized by multiple skeleto-muscular abnormalities [1]. The condition is marked by a small chest and ribcage in children born with it [2].

Some of the key features of asphyxiating thoracic dystrophy include:

• A narrow thorax, which can lead to breathing difficulties
• Shortened limbs, which can vary in severity
• Radiological skeletal abnormalities, such as short ribs and vertebral anomalies

The condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [4]. Asphyxiating thoracic dystrophy is considered a type of short-limbed skeletal dysplasia [8].

It's worth noting that asphyxiating thoracic dystrophy can be associated with other health complications, such as polydactyly (extra fingers or toes) and respiratory problems due to the narrow chest cavity [9].

Asphyxiating Thoracic Dystrophy (ATD), 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 ATD can vary in severity and may include:

• Narrow thorax: A small or narrow chest cavity that restricts the growth and expansion of the lungs.
• Short ribs: Ribs that are shorter than normal, which can further restrict lung expansion.
• Shortened limbs: Short arms and legs due to shortened bones.
• Respiratory difficulties: Breathing problems due to the narrow chest cavity and short ribs.
• Fast breathing: Rapid breathing rate as a compensatory mechanism for the restricted lung capacity.
• Small, narrow rib cage: A small or narrow rib cage that can be seen on X-rays.

According to medical sources [1], ATD is characterized by a narrow thorax, short hypoplastic ribs, and short tubular bones. Other ultrasonographic findings may include extra fingers and toes, which are also known as polydactyly [4].

In severe cases, individuals with ATD may experience respiratory infections and difficulties due to the compromised lung capacity [6]. It's essential to note that each individual with ATD may exhibit a unique set of symptoms, and the severity can vary from person to person.

References: [1] - Characteristic findings include a narrow thorax, short hypoplastic ribs, and short tubular bones. Other ultrasonographic findings include extra fingers and toes. [4] - Feb 2, 2024 — Characteristic findings include a narrow thorax, short hypoplastic ribs, and short tubular bones. Other ultrasonographic findings include ... [6] - Bell-shaped chest cavity · Extra fingers and toes · Measuring shorter than average in height · Respiratory infections and difficulties · Short arm and leg bones ...

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

Molecular Genetic Testing Molecular genetic testing is available to confirm the diagnosis of asphyxiating thoracic dystrophy. This type of testing can identify specific genetic mutations that are associated with the condition [1].

Prenatal Diagnosis Jeune syndrome may be detected prenatally through ultrasound imaging, allowing for early identification and planning [4].

Postnatal Diagnosis More often, asphyxiating thoracic dystrophy is diagnosed after birth through clinical evaluation and laboratory studies. The presentation and severity of the condition can vary widely among affected individuals [1].

Laboratory Studies Laboratory studies recommended in Jeune syndrome include:

• Urinalysis to detect hematuria, proteinuria, and defective urine concentrating capacity
• Arterial blood gas (ABG) sampling to assess hypoxia and acidosis
• Other tests may be ordered based on individual clinical presentation [6][10]

Genetic Testing Deletion/duplication analysis can identify alterations of genomic regions that include one whole gene, which is ideal for patients with a clinical suspicion of asphyxiating thoracic dystrophy or short-rib dysplasia with or without polydactyly [9].

It's essential to note that differential diagnosis should include other conditions such as thoracolaryngopelvic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome, and paternal uniparental disomy of chromosome 14 [5].

Asphyxiating Thoracic Dystrophy (ATD) is a rare and severe genetic disorder that affects the development of the chest cavity, leading to respiratory problems and other complications. While there is no cure for ATD, various treatments can help manage its symptoms and improve quality of life.

Current Treatment Options:

• Pulmonary Support: Patients with ATD often require mechanical ventilation or oxygen therapy to support their breathing.
• Nutritional Support:

The differential diagnosis for asphyxiating thoracic dystrophy (ATD) involves considering other conditions that present with similar clinical features, such as respiratory distress and skeletal abnormalities.

• Jeune syndrome: Also known as ATD, Jeune syndrome is a rare genetic disorder characterized by a narrow chest cavity, short ribs, and long limbs