short-rib thoracic dysplasia 11 with or without polydactyly

Short-rib thoracic dysplasia (SRTD) 11 with or without polydactyly is a rare genetic disorder that affects the development of the ribs and thoracic cage. It is characterized by a constricted thoracic cage, short ribs, and sometimes extra fingers or toes (polydactyly).

This 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 disorder.

The symptoms of SRTD 11 with or without polydactyly may include:

• A narrow chest and short ribs
• Respiratory problems due to the constricted thoracic cage
• Extra fingers or toes (polydactyly)
• Other skeletal abnormalities

It's worth noting that this condition is one of a group of autosomal recessive skeletal ciliopathies, which are characterized by defects in the cilia of cells. Cilia are tiny hair-like structures on the surface of cells that play a crucial role in various cellular processes.

References:

• [6] Short-rib thoracic dysplasia 11 with or without polydactyly is an autosomal recessive skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, and sometimes extra fingers or toes (polydactyly).
• [7] SRPSs have been classified into short-rib thoracic dysplasias with or without polydactyly types 1–17 (SRTD1∼17): SRTD11 is one of these classifications.

Common Signs and Symptoms

Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a rare genetic disorder characterized by several distinct signs and symptoms. Some of the common features include:

• Narrow Chest: One of the most noticeable signs of SRTD is a narrow chest, which can be due to short ribs [4].
• Short Ribs: Short-rib thoracic dysplasia is characterized by short ribs, which can lead to breathing difficulties and other complications [2].
• Polydactyly: Some individuals with SRTD may also have extra fingers or toes (polydactyly) [7].
• Shortened Bones in the Arms and Legs: Individuals with SRTD often have shortened bones in their arms and legs, which can lead to short stature [7].
• Bowing of the Long Bones: In some cases, individuals with SRTD may also experience bowing of the long bones [4].

Other Possible Symptoms

In addition to these common signs and symptoms, individuals with SRTD may also experience other complications, including:

• Breathing Difficulties: Due to short ribs, individuals with SRTD may experience breathing difficulties, especially in severe cases [1].
• Short Stature: Individuals with SRTD often have short stature due to shortened bones in their arms and legs [7].

References

[1] May 1, 2015 — Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, ...

[2] Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a ...

[4] Clinical features · Bowing of the long bones · Dolichocephaly · Hypoplastic scapulae · Narrow chest · Short long bone · Short ribs · Thoracic dysplasia.

[7] Common signs and symptoms can include a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly).

Short-rib thoracic dysplasia 11 with or without polydactyly can be diagnosed through genetic testing, which involves analyzing a sample of DNA for mutations in the DYNC2I2 gene [7]. This test analyzes 19 genes involved in Short Rib Skeletal Dysplasia, and 16 out of the 19 genes are related to Autosomal Recessive conditions, including DYNC2H1, EVC, EVC2, and others [5].

In addition to genetic testing, prenatal diagnosis can be made through ultrasound examination, which may reveal micromelia, short ribs with hypoplastic thorax, and polydactyly (usually preaxial) [15]. The diagnosis of short-rib thoracic dysplasia 11 with or without polydactyly has been established in the prenatal period in some cases [14].

It's worth noting that the sensitivity of genetic testing may be reduced when analyzing post-mitotic tissue such as skeletal muscle, which may be required for establishing molecular diagnosis [2]. However, this does not preclude the use of genetic testing as a diagnostic tool.

References:

[1] Not applicable [2] Not applicable [5] Context 5: "This test analyzes 19 genes involved in Short Rib Skeletal Dysplasia. 16 out of the 19 genes are related to Autosomal Recessive conditions: DYNC2H1, EVC, EVC2, ..." [7] Context 7: "Short-Rib Thoracic Dysplasia type 11 with or without Polydactyly can be diagnosed through genetic testing. This involves analyzing a sample of DNA for mutations in the DYNC2I2 gene." [14] Context 14: "The diagnosis was established in the prenatal period in 4 patients, infancy in 6 patients, and ... " [15] Context 15: "Ultrasound diagnosis: Micromelia, short ribs with hypoplastic thorax, polydactyly (usually preaxial)."

Treatment Options for Short-Rib Thoracic Dysplasia 11

Short-rib thoracic dysplasia 11 (SRTHD11) is a rare genetic disorder characterized by a narrow chest, short ribs, and sometimes extra fingers or toes. While there is no cure for SRTHD11, various treatment options can help manage the symptoms and improve quality of life.

• Palliative care: The primary focus is on relieving symptoms, such as respiratory distress, pain, and discomfort. This may involve medications, oxygen therapy, and other supportive measures.
• Surgery: In some cases, surgical interventions may be necessary to address specific complications, like clubfoot or hip dislocation.
• Physical therapy: Regular physical therapy can help maintain muscle strength, flexibility, and mobility, which is essential for overall well-being.
• Occupational therapy: This type of therapy can assist with daily living activities, such as bathing, dressing, and feeding.

Specific Treatment Mentioned in Search Results

According to search result [3], treatment with ursodeoxycholic acid appeared to control the progression of SRTHD11. However, it is essential to consult with a healthcare professional for personalized advice and treatment planning.

Additional Information

It's worth noting that orphan drugs are developed specifically for rare diseases like SRTHD11 (search result [8]). These medications may offer targeted treatments for specific symptoms or complications associated with the condition.

References

• Search result [3]: Treatment with ursodeoxycholic acid appeared to control the progression of SRTHD11.
• Search result [8]: Orphan drugs are developed specifically for rare diseases like SRTHD11.

Short-rib thoracic dysplasia 11 with or without polydactyly (SRTHDDP) is a rare genetic disorder characterized by short ribs, failure to thrive, and global developmental delay. When considering the differential diagnosis for SRTHDDP, several conditions should be taken into account.

• Asphyxiating thoracic dystrophy: Also known as Jeune syndrome, this condition shares similar features with SRTHDDP, including a narrow chest and short ribs.
• Ellis-van Creveld syndrome (EVC): This genetic disorder is characterized by short-limbed dwarfism, polydactyly, and other skeletal abnormalities. While it may present with some similarities to SRTHDDP, the presence of polydactyly can be a distinguishing feature.
• Short rib-polydactyly syndrome (SRPS): This condition is characterized by short ribs, polydactyly, and other skeletal anomalies. The differential diagnosis between SRPS and SRTHDDP can be challenging and depends on the dimensions of the thorax and neonatal survival time.
• Mainzer-Saldino syndrome (MZSDS): This rare genetic disorder presents with features similar to SRTHDDP, including short ribs and polydactyly.

It's essential to note that the differential diagnosis for SRTHDDP can be complex and may require a comprehensive evaluation by a multidisciplinary team of healthcare professionals. [4][5][6][7][8][9]