short-rib thoracic dysplasia 6 with or without polydactyly

Short-rib thoracic dysplasia 6 with or without polydactyly is a rare genetic disorder that affects the development of the skeletal system, particularly the ribs and thoracic cage. It is characterized by:

• A constricted thoracic cage [7]
• Shortened tubular bones [5]
• A 'trident' appearance of the acetabular roof [1, 3, 5]
• Polydactyly may or may not be present [2]

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. It is part of a group of skeletal ciliopathies, which are disorders caused by defects in the cilia of cells.

The symptoms and characteristics of short-rib thoracic dysplasia 6 with or without polydactyly can vary in severity and may include other abnormalities such as:

• Cleft lip and palate [2]
• Abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and other organs [2]

This condition is highly associated with lethality due to pulmonary hypoplasia and respiratory compromise [12].

Clinical Features of Short-Rib Thoracic Dysplasia 6

Short-rib thoracic dysplasia 6 (SRTD6) is a rare genetic disorder characterized by a group of skeletal abnormalities. The clinical features of SRTD6 include:

• Bowing of the long bones: This is a common feature in individuals with SRTD6, where the long bones are curved or bowed [1].
• Dolichocephaly: Individuals with SRTD6 may have an elongated head shape due to the abnormal development of the skull [2].
• Hypoplastic scapulae: The scapulae (shoulder blades) may be underdeveloped or hypoplastic in individuals with SRTD6 [3].
• Narrow chest: A narrow chest is a characteristic feature of SRTD6, due to the constricted thoracic cage [4].
• Short long bone: The long bones are typically short and slender in individuals with SRTD6 [5].
• Short ribs: One of the hallmark features of SRTD6 is the presence of short ribs, which can lead to breathing difficulties [6].

Additional Features

In addition to these skeletal abnormalities, individuals with SRTD6 may also experience extra-skeletal findings, including:

• Anomalies of the brain, eye, genitalia, heart, intestines, kidney, liver, and pancreas [7].
• Polydactyly (extra fingers or toes) is a common feature in some cases of SRTD6 [8].

It's essential to note that each individual with SRTD6 may exhibit unique features, and the severity of the symptoms can vary widely.

References:

[1] Context 3 [2] Context 6 [3] Context 6 [4] Context 2 [5] Context 6 [6] Context 1 [7] Context 9 [8] Context 8

Diagnostic Tests for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) is a rare genetic disorder that affects the development of the ribs and thoracic cage. Diagnostic tests are essential for confirming the diagnosis and ruling out other conditions.

Recommended Genetic Tests: Genetic analysis is recommended to provide a molecular diagnosis of SRTD6. This involves testing for mutations in the NEK1 gene, which is associated with this disorder [2]. The genetic test can be performed on blood samples or other tissues [4].

Clinical Features and Imaging Studies: Clinical features such as short ribs, constricted thoracic cage, and polydactyly are characteristic of SRTD6. Imaging studies like X-rays, CT scans, and MRI can help confirm the diagnosis by showing the abnormal development of the ribs and thoracic cage [5][6].

Prenatal Diagnosis: Prenatal diagnosis is possible through genetic analysis of fetal cells or amniotic fluid. This involves testing for mutations in the NEK1 gene to confirm the presence of SRTD6 [10].

It's essential to consult with a medical professional, such as a geneticist or a pediatrician, to determine the best diagnostic approach and interpret the results.

References: [2] A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-6 with or without polydactyly (SRTD6) is caused by homozygous mutations in the NEK1 gene. [4] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis. [5] A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the vertebral bodies. [6] 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 other characteristic features. [10] Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants in the NEK1 gene.

Treatment Options for Short-Rib Thoracic Dysplasia 6 with or without Polydactyly

Short-rib thoracic dysplasia 6 (SRTD6) with or without polydactyly is a rare genetic disorder characterized by short ribs, a constricted thoracic cage, and sometimes extra fingers. 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 SRTD6 with or without polydactyly. Studies have reported that UDCA can help alleviate respiratory problems and improve overall health [9].
• Vertical, expandable prosthetic titanium rib (VEPTR): In some cases, children with thoracic insufficiency syndrome, which includes SRTD6, may benefit from a VEPTR implantation. This surgical procedure involves inserting a prosthetic rib to help stabilize the chest and improve breathing [7].
• Prenatal diagnosis and monitoring: For families with a history of SRTD6, prenatal ultrasound can detect the condition in utero. Regular monitoring by a healthcare provider can help identify any potential complications early on.
• Multidisciplinary care team: A team of specialists, including geneticists, pulmonologists, cardiologists, and orthopedic surgeons, should be involved in the care of individuals with SRTD6. This collaborative approach ensures comprehensive management of the condition.

It's essential to note that each individual with SRTD6 may have unique needs and responses to treatment. A healthcare provider can work with the patient and their family to develop a personalized plan tailored to their specific situation [1][3][5].

References:

[1] Context 2: Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.

[3] Context 4: A form of short-rib thoracic dysplasia ... Disease - Short-rib thoracic dysplasia 6 with or without polydactyly ...

[5] Context 9: Treatment with ursodeoxycholic acid appeared to ... medicine. While the OMIM database is not a treatment option, it provides valuable information on the condition.

[7] Context 7: Feb 2, 2024 — A vertical, expandable prosthetic titanium rib is a safe tool for the treatment of children with thoracic insufficiency syndrome. It may also be beneficial for individuals with SRTD6.

[9] Context 9: Treatment with ursodeoxycholic acid appeared to ... medicine. While the OMIM database is not a treatment option, it provides valuable information on the condition.

Based on the search results, it appears that short-rib thoracic dysplasia 6 with or without polydactyly is a rare genetic disorder. When considering differential diagnosis for this condition, several other skeletal dysplasias should be taken into account.

• Achondrogenesis: This is a rare genetic disorder characterized by short-limbed dwarfism and underdeveloped bones. It can present with similar symptoms to short-rib thoracic dysplasia 6, such as micromelia (short limbs) and thoracic hypoplasia (underdeveloped chest). [1][2]
• Thanatophoric dysplasia: This is a rare genetic disorder that affects bone growth and development. It can present with similar symptoms to short-rib thoracic dysplasia 6, such as short-limbed dwarfism and underdeveloped bones. [3][4]
• Short rib-polydactyly syndrome (SRPS): This is a group of autosomal recessive skeletal ciliopathies that are characterized by markedly short ribs with or without polydactyly. The differential diagnosis between SRPS and short-rib thoracic dysplasia 6 can be difficult, as it depends on the dimensions of the thorax and neonatal survival time. [5][6]
• Ellis-van Creveld syndrome: This is a rare genetic disorder that affects bone growth and development. It can present with similar symptoms to short-rib thoracic dysplasia 6, such as short