short-rib thoracic dysplasia 13 with or without polydactyly

Short-Rib Thoracic Dysplasia 13 with or without Polydactyly: A Rare Skeletal Disorder

Short-rib thoracic dysplasia 13 with or without polydactyly is a rare autosomal recessive ciliopathy characterized by a constricted thoracic cage, short ribs, and sometimes polydactyly (extra fingers or toes) [2]. This condition is part of a group of skeletal ciliopathies known as Short-rib Thoracic Dysplasia (SRTD), which are caused by mutations in genes responsible for the formation and function of cilia [4][5].

Clinical Features

The clinical features of short-rib thoracic dysplasia 13 with or without polydactyly include:

• A constricted thoracic cage, which can lead to respiratory problems
• Short ribs, which can affect lung development and function
• Polydactyly (extra fingers or toes) in some cases [2]
• Other skeletal abnormalities may be present

Genetic Basis

This condition is caused by a homozygous mutation in the CEP120 gene on chromosome 5q23 [3]. The CEP120 gene plays a crucial role in cilia formation and function, and mutations in this gene can lead to various ciliopathies.

References

[1] Not provided (no relevant information found)

[2] Short-rib thoracic dysplasia 13 with or without polydactyly is an autosomal recessive ciliopathy characterized by a constricted thoracic cage, short ribs, and sometimes polydactyly. [Context: 2]

[3] An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. [Context: 3]

[4] Short-rib Thoracic Dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, and sometimes polydactyly. [Context: 4]

[5] Short-rib Thoracic Dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, and sometimes polydactyly. [Context: 5]

[6] Short-rib thoracic dysplasia 3 with or without polydactyly is an autosomal recessive skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, and sometimes polydactyly. [Context: 6]

[7] An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. [Context: 7]

[8] Short-rib Thoracic Dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, and sometimes polydactyly. [Context: 8]

[9] Short-rib Thoracic Dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, and sometimes polydactyly. [Context: 9]

Note: The references provided are based on the context information retrieved from the search engine.

Short-Rib Thoracic Dysplasia 13 (SRTD13) with or without Polydactyly: Signs and Symptoms

Short-rib thoracic dysplasia 13 (SRTD13), also known as short-rib polydactyly syndrome type III, is a rare genetic disorder characterized by skeletal abnormalities. The signs and symptoms of SRTD13 can vary in severity and may include:

• Skeletal deformities: Shortened long bones, short ribs, and narrow chest are common features of SRTD13 [3].
• Polydactyly: Extra fingers or toes may be present in some individuals with SRTD13 [4].
• Respiratory problems: The narrowed chest and shortened ribs can lead to breathing difficulties and respiratory distress [5].
• Intellectual disability: Some individuals with SRTD13 may experience intellectual disability, which can range from mild to severe [7].
• Nystagmus: Abnormal eye movements, known as nystagmus, have been reported in some cases of SRTD13 [7].

Other possible symptoms

In addition to the above-mentioned signs and symptoms, individuals with SRTD13 may also experience:

• Bowing of long bones
• Dolichocephaly (an elongated head shape)
• Hypoplastic scapulae (underdeveloped shoulder blades)
• Narrow chest

It's essential to note that the severity and presentation of SRTD13 can vary significantly from one individual to another. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.

References:

[3] - Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a ... [1] [4] - We present the perinatal imaging findings and molecular genetic analysis in a fetus with short-rib polydactyly syndrome (SRPS) type III or short-rib thoracic ... [2] [5] - Clinical features · Bowing of the long bones · Dolichocephaly · Hypoplastic scapulae · Narrow chest · Short long bone · Short ribs · Thoracic dysplasia. [3] [7] - Symptoms · Neurologic - Central Nervous System 57 : intellectual disability · Head And Neck - Eyes 57 : nystagmus · Head And Neck - Nose 57 : depressed nasal ... [7]

Note: The numbers in square brackets refer to the corresponding search result number.

Short-rib thoracic dysplasia 13 with or without polydactyly is a rare genetic disorder, and its diagnosis can be challenging. However, based on the search results, here are some diagnostic tests that may be relevant:

• Genetic testing: Genetic testing can confirm the presence of mutations in the CEP120 gene, which is associated with short-rib thoracic dysplasia 13 with or without polydactyly [1]. This test can identify homozygous or compound heterozygous mutations in the CEP120 gene.
• Exome testing: Exome testing has been used to confirm the clinical diagnosis of short rib thoracic dysplasia with or without polydactyly, as seen in a case report where missense variants were identified in the IFT172 gene [13].
• Ultrasound examination: Ultrasound examination can be used to diagnose short-rib polydactyly syndrome, including short-rib thoracic dysplasia 13 with or without polydactyly. This test can identify micromelia, short ribs with hypoplastic thorax, and polydactyly [14].
• Imaging studies: Imaging studies such as X-rays and CT scans may be used to confirm the diagnosis of short-rib thoracic dysplasia 13 with or without polydactyly. These tests can help identify characteristic features such as a constricted thoracic cage, short ribs, and polydactyly [15].

It's worth noting that these diagnostic tests are not exhaustive, and a comprehensive evaluation by a geneticist or a medical specialist is necessary to confirm the diagnosis of short-rib thoracic dysplasia 13 with or without polydactyly.

Treatment Options for Short-Rib Thoracic Dysplasia 13

Short-rib thoracic dysplasia 13 (SRTHD13), also known as Jeune syndrome, is a rare genetic disorder characterized by a narrow chest and short ribs. While there is no cure for SRTHD13, various treatment options can help manage the symptoms and improve quality of life.

Medications

One potential treatment option for SRTHD13 is ursodeoxycholic acid (UDCA). Research suggests that UDCA may help alleviate some of the symptoms associated with this condition [3]. However, more studies are needed to confirm its effectiveness in treating SRTHD13.

Surgical Interventions

In severe cases of SRTHD13, surgical interventions may be necessary to correct chest deformities and improve respiratory function. Chest reconstruction and enlargement of the thoracic cage through sternotomy and fixation with bone grafts or a methylmethacrylate prosthesis plate have been reported as treatment options [6].

Other Therapies

While there is limited information available on specific treatments for SRTHD13, other therapies such as physical therapy and respiratory care may be beneficial in managing symptoms and improving overall health.

It's essential to consult with a healthcare professional for personalized advice and treatment. They can help determine the best course of action based on individual needs and circumstances.

References:

[3] - Treatment with ursodeoxycholic acid appeared to improve some symptoms in patients with SRTHD13 (Source: Search Result 3)

[6] - Chest reconstruction and enlargement of the thoracic cage through sternotomy and fixation with bone grafts or a methylmethacrylate prosthesis plate have been reported as treatment options for SRTHD13 (Source: Search Result 6)

Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a group of autosomal recessive skeletal ciliopathies characterized by markedly short ribs and/or polydactyly. The differential diagnosis for SRTD with or without polydactyly includes:

• Asphyxiating Thoracic Dysplasia (ATD): Also known as Jeune syndrome, this condition is a type of rare short limb skeletal dysplasia [4].
• Ellis-Van Creveld Syndrome: This is a genetic disorder characterized by short-limbed dwarfism, polydactyly, and other skeletal abnormalities. Hexadactyly of the fingers is a constant finding in this syndrome but is rare in asphyxiating thoracic dysplasia [7].
• Sensenbrenner Syndrome: This is another type of skeletal dysplasia that can present with short ribs and polydactyly.
• Meckel-Gruber Syndrome: This is a rare genetic disorder characterized by cystic kidneys, polydactyly, and other skeletal abnormalities. It may be considered in the differential diagnosis for SRTD with or without polydactyly [8].
• Achondrogenesis: This is a