short-rib thoracic dysplasia 7 with or without polydactyly

Short-Rib Thoracic Dysplasia 7 (SRTD7) with or without Polydactyly

Short-Rib Thoracic Dysplasia 7, also known as SRTD7, is a rare genetic disorder that affects the development of the thoracic cage and ribs. It is characterized by a constricted thoracic cage, short ribs, and sometimes polydactyly (extra fingers or toes).

Key Features:

• Constricted thoracic cage
• Short ribs
• Polydactyly may be present in some cases

Causes and Inheritance: SRTD7 is an autosomal recessive skeletal ciliopathy, meaning that it is caused by mutations in the WDR35 gene on chromosome 2p21.1. This condition is inherited in an autosomal recessive pattern, where a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

References:

• [6] Short-rib thoracic dysplasia 7 with or without polydactyly is an autosomal recessive skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, and sometimes polydactyly.
• [8] SRTD1∼17: SRTD1 refers to the classification of SRPSs into short-rib thoracic dysplasias with or without polydactyly types 1–17.

Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. The clinical features of SRTD with or without polydactyly can vary, but common signs and symptoms include:

• A narrow chest
• Short ribs
• Shortened bones in the arms and legs
• Short stature
• Extra fingers and toes (polydactyly)
• Abnormality of head or neck
• Carious teeth
• Abnormality of limbs
• Angel-shaped phalanx
• Abnormality of the digestive system
• Protuberant abdomen

It's worth noting that SRTD with or without polydactyly can also be associated with extra-skeletal findings, such as anomalies of the brain, eye, genitalia, heart, intestines, kidney, liver, and pancreas.

According to [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).

Additionally, [8] mentions that extra-skeletal findings may include anomalies of the brain, eye, genitalia, heart, intestines, kidney, liver, and pancreas.

It's also mentioned in [10] that SRTD with or without polydactyly is characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof.

Diagnostic Tests for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Short-rib thoracic dysplasia 7 with or without polydactyly is a rare genetic disorder that affects the development of the ribs and other skeletal structures. Diagnostic tests are essential to confirm the presence of this condition.

• Genetic Analysis: Genetic testing is recommended for individuals with a personal and/or family history of short-rib thoracic dysplasia 7 with or without polydactyly [4]. This test analyzes the WDR35 gene on chromosome 2p21.1, which is responsible for this disorder [3].
• Clinical Features: A combination of physical exams, medical imaging (such as X-rays and CT scans), and genetic analysis are used to diagnose short-rib thoracic dysplasia 7 with or without polydactyly [9]. Clinical features include a narrow chest, short ribs, and other skeletal abnormalities.
• Genetic Tests: Genetic tests related to short-Rib Thoracic Dysplasia 7 with or Without Polydactyly are available, but should not be used for diagnostic purposes without consulting a medical professional [6].
• Recommended Test: A genetic test that analyzes the WDR35 gene is ideal for patients with a clinical suspicion of asphyxiating thoracic dystrophy or short-rib dysplasia with or without polydactyly, and is recommended by experts [5].

It's essential to consult a medical professional for accurate diagnosis and treatment. They will recommend the most suitable diagnostic tests based on individual circumstances.

References: [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [9] Context result 9

Treatment Options for Short-Rib Thoracic Dysplasia 7

Short-rib thoracic dysplasia 7 (SRP-D7) is a rare genetic disorder characterized by a narrow chest, short ribs, and often associated with polydactyly. While there is no cure for SRP-D7, various treatment options can help manage the condition and improve quality of life.

Medications

According to search results [4], treatment with ursodeoxycholic acid has been reported to be beneficial in some cases. However, more research is needed to confirm its effectiveness.

• Supplemental oxygen: In severe cases, supplemental oxygen may be necessary to support breathing difficulties [2].
• Intravenous antibiotics and oseltamivir: These medications have been used to treat respiratory infections associated with SRP-D7 [2].

Other Management Strategies

While not a direct treatment for SRP-D7, managing related complications is crucial. This includes:

• Monitoring for respiratory problems: Regular check-ups can help identify potential breathing difficulties early on.
• Physical therapy and exercise: Gentle exercises and physical therapy can help maintain muscle strength and mobility.

It's essential to consult with a healthcare professional for personalized advice and treatment planning. They will be able to provide guidance based on the individual's specific needs and medical history.

References:

[1] Orphanet summary (not directly relevant, but provides context) [2] Context result 2: Oct 7, 2020 [3] Context result 5: SRPs belong to the short rib dysplasia with or without polydactyly... [4] Context result 8: ... treatment with ursodeoxycholic acid appeared to...

Short-rib thoracic dysplasia 7 with or without polydactyly is a rare genetic disorder characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' acetabular roof appearance. When considering the differential diagnosis for this condition, several other skeletal dysplasias should be taken into account.

• Achondrogenesis: This is a rare genetic disorder characterized by short limbs, short ribs, and a narrow chest. While it shares some similarities with short-rib thoracic dysplasia 7, achondrogenesis typically presents with more pronounced limb shortening and a more severe degree of skeletal hypoplasia.
• Thanatophoric dysplasia: This is another rare genetic disorder that affects bone growth, leading to short limbs and a narrow chest. However, thanatophoric dysplasia is typically associated with more pronounced limb shortening and a distinctive "mushroom-shaped" head.
• Ellis-van Creveld syndrome: Also known as chondroectodermal dysplasia, this genetic disorder affects the development of cartilage and bones, leading to short limbs, short ribs, and a narrow chest. While it shares some similarities with short-rib thoracic dysplasia 7, Ellis-van Creveld syndrome typically presents with more pronounced limb shortening and a distinctive "clubfoot" deformity.
• Asphyxiating thoracic dystrophy (Jeune syndrome): This is a rare genetic disorder that affects the development of the chest cavity, leading to a narrow chest and short ribs. While it shares some similarities with short-rib thoracic dysplasia 7, asphyxiating thoracic dystrophy typically presents with more pronounced respiratory distress and a higher risk of early mortality.
• Thoracolaryngopelvic dysplasia: This is a rare genetic disorder that affects the development of the chest cavity, leading to a narrow chest and short ribs. While it shares some similarities with short-rib thoracic dysplasia 7, thoracolaryngopelvic dysplasia typically presents with more pronounced respiratory distress and a higher risk of early mortality.

It's essential to note that these conditions can present with overlapping symptoms, making differential diagnosis challenging. A comprehensive diagnostic evaluation, including radiographic imaging, genetic testing, and clinical assessment, is necessary to accurately diagnose short-rib thoracic dysplasia 7 with or without polydactyly and distinguish it from other skeletal dysplasias.