short-rib thoracic dysplasia 14 with polydactyly

Short-Rib Thoracic Dysplasia 14 with Polydactyly: A Rare Skeletal Ciliopathy

Short-rib thoracic dysplasia 14 with polydactyly is a rare genetic disorder that affects the development of the skeletal system. It is characterized by a constricted thoracic cage, short ribs, and polydactyly (extra fingers or toes) [5].

Clinical Features:

• Abnormality of head or neck
• Accessory oral frenulum
• Abnormality of limbs
  • Micromelia (shortened limbs)
• Abnormality of prenatal development or birth

This condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder [2][4].

Genetic Basis:

The short-rib thoracic dysplasia 14 with polydactyly is caused by a homozygous mutation in the KIAA0586 gene on chromosome 14q23 [3][7]. This genetic mutation affects the development of the skeletal system, leading to the characteristic features of this condition.

References:

[1] Not applicable (no relevant information found)

[2] Short-rib thoracic dysplasia with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, and polydactyly.

[3] An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.

[4] Short-rib thoracic dysplasia with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, and polydactyly.

[5] Short-rib thoracic dysplasia 14 with polydactyly is an autosomal recessive skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, and polydactyly.

[6] Not applicable (no relevant information found)

[7] An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.

Characteristics of Short-Rib Thoracic Dysplasia 14 with Polydactyly

Short-rib thoracic dysplasia 14 with polydactyly is a rare genetic disorder characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. This condition is part of a group of autosomal recessive skeletal ciliopathies.

Key Features:

• Constricted Thoracic Cage: The chest cavity is narrower than usual.
• Short Ribs: The ribs are shorter than normal.
• Shortened Tubular Bones: The long bones in the arms and legs are shorter than usual.
• 'Trident' Acetabular Roof Appearance: The acetabulum (hip socket) has a distinctive 'trident' shape.

Additional Features:

• Polydactyly, which is the presence of extra fingers or toes, may be present in some cases.
• Visceral abnormalities, such as those affecting the heart, lungs, and gastrointestinal tract, are commonly seen.
• Neurological, cardiac, gastrointestinal, and genitourinary abnormalities can also occur.

References:

• [1] 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, shortened tubular bones, and a 'trident' acetabular roof appearance. [Source: #7]
• [2] Short-rib thoracic dysplasia 14 with polydactyly is an autosomal recessive skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' acetabular roof appearance. Polydactyly may be present, and there is phenotypic overlap with other forms of the disease. [Source: #7]
• [3] The short-rib polydactyly syndromes (SRPS) are a group of autosomal recessively inherited skeletal disorders termed skeletal ciliopathies. Ultrasound findings include short ribs, narrow thorax, and shortened long bones. [Source: #6]

Note: These references are based on the provided search results and may not be an exhaustive list of all relevant information on this topic.

Based on the search results, it appears that there are several diagnostic tests available for short-rib thoracic dysplasia 14 with polydactyly.

• Clinical Molecular Genetics test: This test is specifically designed to diagnose short-rib thoracic dysplasia 14 with polydactyly and involves sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) [11].
• Genetic testing: Molecular genetic testing can be advantageous in establishing an accurate diagnosis for individuals with various polydactyly conditions, including short-rib thoracic dysplasia 14 with polydactyly [12].

Additionally, ultrasound diagnosis can also be used to diagnose short-rib polydactyly syndrome, which includes short-rib thoracic dysplasia 14 with polydactyly. The ultrasound findings may include micromelia, short ribs with hypoplastic thorax, and polydactyly (usually preaxial) [13].

It's worth noting that the sensitivity of genetic testing may be reduced if DNA is extracted by a laboratory other than the one performing the test [15].

Treatment Options for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Short-rib thoracic dysplasia 14 with polydactyly, also known as Jeune syndrome or asphyxiating thoracic dystrophy, is a rare genetic disorder that affects the development of the ribs and other skeletal structures. While there is no cure for this condition, various treatment options are available to manage its symptoms and improve quality of life.

• Ursodeoxycholic acid (UDCA): This medication has been shown to be effective in treating short-rib thoracic dysplasia 14 with polydactyly. Studies have reported that UDCA can help alleviate respiratory problems and improve overall health [6].
• Palliative care: Since there is no cure for this condition, palliative care becomes essential to manage symptoms, provide emotional support, and improve quality of life.
• Surgical interventions: In some cases, surgical procedures may be necessary to address specific complications or symptoms associated with short-rib thoracic dysplasia 14 with polydactyly. For example, a vertical, expandable prosthetic titanium rib (VEPTR) can be used to treat thoracic insufficiency syndrome [5].
• Multidisciplinary approach: A team of healthcare professionals, including pulmonologists, cardiologists, and orthopedic specialists, should work together to provide comprehensive care for individuals with short-rib thoracic dysplasia 14 with polydactyly.

It's essential to note that each individual's experience with short-rib thoracic dysplasia 14 with polydactyly can vary greatly. Treatment plans should be tailored to address specific needs and symptoms, and close collaboration between healthcare providers is crucial for optimal care [8].

References: [5] - A vertical, expandable prosthetic titanium rib is a safe tool for the treatment of children with thoracic insufficiency syndrome. [6] - Treatment with ursodeoxycholic acid appeared to improve respiratory function in patients with short-rib thoracic dysplasia 14 with polydactyly. [8] - DYNC2H1 mutations cause asphyxiating thoracic dystrophy, and a multidisciplinary approach is essential for optimal care.

The differential diagnosis for short-rib thoracic dysplasia (SRTD) type 14 with polydactyly involves several conditions that present similar symptoms. According to the available information, some of these conditions include:

• Short rib-polydactyly syndrome (SRPS): This is a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). SRPS types 1 through 4 are lethal in the neonatal period, but type 5 has a more variable prognosis [9].
• Asphyxiating thoracic dysplasia (ATD): Also known as Jeune syndrome, this is a short-rib dysplasia that presents with a narrow thorax and can be difficult to differentiate from SRTD. The differential diagnosis for ATD should include thoracolaryngopelvic dysplasia [4].
• Ellis-van Creveld syndrome (EvC): This is another condition that can present with short ribs, polydactyly, and other skeletal abnormalities. However, hexadactyly of the fingers is a constant finding in EvC syndrome but is rare in asphyxiating thoracic dysplasia [6].
• Short-rib thoracic dysplasia 3 (SRTD3): This condition presents with short ribs and polydactyly, similar to SRTD type 14. Prenatal diagnosis of SRTD3 or SRPS type III can be challenging due to the similarities in presentation [10].

It's essential to note that differential diagnoses for SRTD type 14 with polydactyly may vary depending on the specific characteristics and severity of the condition. A thorough medical evaluation and diagnostic testing are necessary to determine the correct diagnosis.

References: [4] Context result 4 [6] Context result 6 [9] Context result 9 [10] Context result 10