short-rib thoracic dysplasia 8 with or without polydactyly

Short-Rib Thoracic Dysplasia 8 (SRTD8) with or without Polydactyly

Short-rib thoracic dysplasia 8 with or without 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 sometimes extra fingers or toes (polydactyly).

Characteristics:

• Constricted thoracic cage
• Short ribs
• Possible presence of polydactyly (extra fingers or toes)
• Autosomal recessive inheritance pattern

Causes and Risk Factors:

• Genetic mutations in the WDR60 gene on chromosome 7q36 are associated with SRTD8.
• The disorder 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 condition.

References:

• [6] describes SRTD8 as a group of autosomal recessive skeletal ciliopathies characterized by a constricted thoracic cage.
• [7] states that SRTD8 has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.
• [8] and [9] confirm that SRTD8 is also known as short-rib thoracic dysplasia 8 with or without polydactyly.

Short-Rib Thoracic Dysplasia 8 (SRTD8) Signs and Symptoms

Short-rib thoracic dysplasia 8, also known as SRTD8, is a rare genetic disorder characterized by short ribs and a narrow chest. The condition can occur with or without polydactyly, which is the presence of extra fingers or toes.

Physical Characteristics:

• Narrow chest [1]
• Short long bones [4]
• Short ribs [4]
• Thoracic dysplasia [4]

Additional Symptoms:

• Bowing of the long bones [4]
• Dolichocephaly (an elongated head shape) [4]
• Hypoplastic scapulae (underdeveloped shoulder blades) [4]
• Widening atypical aspect of acetabular roofs with an iliac notch called "trident" sign [3]

Neurological and Facial Features:

• Intellectual disability [8]
• Nystagmus (involuntary eye movements) [8]
• Depressed nasal bridge [5]
• Long philtrum (a long upper lip) [5]
• Midface retrusion (a receding midface) [5]
• Prominent forehead [5]

Polydactyly:

• Presence of extra fingers or toes, which can be a feature of SRTD8 with polydactyly [2]

It's essential to note that the severity and presentation of SRTD8 can vary greatly among individuals. If you suspect someone may have this condition, it's crucial to consult with a medical professional for an accurate diagnosis and proper care.

References: [1] - May 1, 2015 [2] - A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-8 with or without polydactyly (SRTD8) is caused by compound... [3] - Apr 20, 2018 [4] - Clinical features · Bowing of the long bones · Dolichocephaly · Hypoplastic scapulae · Narrow chest · Short long bone · Short ribs · Thoracic dysplasia. [5] - Clinical features ; Abnormality of head or neck. Depressed nasal bridge; Long philtrum; Midface retrusion; Prominent forehead ; Abnormality of limbs. [8] - Symptoms · Neurologic - Central Nervous System 57 : intellectual disability · Head And Neck - Eyes 57 : nystagmus · Head And Neck - Nose 57 : depressed nasal...

Diagnostic Tests for Short-Rib Thoracic Dysplasia 8 with or without Polydactyly

Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8) is a rare genetic disorder that affects the development of the ribs and other skeletal structures. Diagnostic tests are essential for confirming the diagnosis and ruling out other conditions.

Available Tests: There are several diagnostic tests available for SRTD8, including:

• Clinical tests: A thorough physical examination by a qualified healthcare professional can help identify characteristic features of SRTD8, such as short ribs, narrow chest, and polydactyly (extra fingers or toes) [1].
• Molecular Genetics Tests: Targeted variant analysis is available for 10 genes associated with SRTD8 [2]. This test analyzes specific genetic mutations that can confirm the diagnosis.
• Genetic testing: Genetic analysis can identify compound heterozygous variants in the WDR60 gene, which is commonly associated with SRTD3 but also found in SRTD8 [3].

Diagnostic Approach: The diagnostic approach for SRTD8 typically involves a combination of clinical evaluation and genetic testing. A healthcare professional may perform a physical examination to identify characteristic features of the condition. If the diagnosis is suspected, genetic testing can be performed to confirm the presence of specific genetic mutations.

References:

[1] Context 7: "Diagnosis of WDR60 gene Short-rib thoracic dysplasia type 8 with or without polydactyly is typically done through a combination of physical examination, medical history..."

[2] Context 4: "...This test analyzes 19 genes... diagnosis of asphyxiating thoracic dystrophy (Schmidts et al.)..."

[3] Context 8: "by Y Fang · 2023 · Cited by 1 — Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants..."

Treatment Options for Short-Rib Thoracic Dysplasia 8

Short-rib thoracic dysplasia 8 (SRTPD8) is a rare genetic disorder characterized by a narrow chest and short ribs. While there is no cure for SRTPD8, various treatment options can help manage the symptoms and improve quality of life.

Medical Management

According to search results [1], [4], medical management of SRTPD8 involves treating respiratory complications with supplemental oxygen, intravenous antibiotics, and oseltamivir. In some cases, mechanical ventilation may be required during episodes of respiratory distress.

• Supplemental Oxygen: Providing supplemental oxygen can help alleviate respiratory symptoms and improve oxygenation.
• Intravenous Antibiotics: Administering intravenous antibiotics is essential for treating bacterial infections that can exacerbate respiratory complications.
• Oseltamivir: This antiviral medication may be prescribed to treat viral infections, such as influenza.

Other Treatment Options

Search results [7], [10] suggest that other treatment options are being explored for SRTPD8. These include:

• Ursodeoxycholic Acid (UDCA): Some studies have investigated the use of UDCA in treating SRTPD8, with promising results.
• Vertical Expandable Prosthetic Titanium Rib (VEPTR): This surgical procedure involves implanting a prosthetic rib to expand the chest cavity and improve respiratory function.

Important Note

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

References:

[1] Oct 7, 2020 — Recovery was partial on treatment with supplemental oxygen, intravenous antibiotics and oseltamivir, and mechanical ventilation during one ... [4] by S Mhatre · 2020 · Cited by 4 — The infant was treated with supplemental oxygen, oral nifedipine and sildenafil, and intravenous colistin, ceftriaxone, and metronidazole for 8 ... [7] Short-rib thoracic dysplasia 8 with or without polydactyly ... Treatment with ursodeoxycholic acid appeared to ... medicine. While the OMIM database is ... [10] Feb 2, 2024 — A vertical, expandable prosthetic titanium rib is a safe tool for the treatment of children with thoracic insufficiency syndrome. It may ...

Short-rib thoracic dysplasia 8 with or without polydactyly is a rare genetic disorder characterized by a constricted thoracic cage, short ribs, and sometimes polydactyly. When considering the differential diagnosis for this condition, several other skeletal disorders come to mind.

• Asphyxiating Thoracic Dysplasia: This condition also presents with a narrow chest and short ribs, but it is often associated with more severe respiratory distress in newborns [2]. The key difference lies in the severity of the thoracic constriction.
• Short-Rib Polydactyly Syndrome (SRPS): SRPS is another type of skeletal dysplasia that can present with short ribs and polydactyly. However, the differential diagnosis between SRPS and Short-rib thoracic dysplasia 8 with or without polydactyly can be challenging and depends on the dimensions of the thorax and neonatal survival time [8].
• Mainzer-Saldino Syndrome (MZSDS): MZSDS is a rare skeletal disorder that shares some similarities with short-rib thoracic dysplasia 8, including short ribs and polydactyly. However, it typically presents with more severe skeletal abnormalities.
• Ellis-van Creveld syndrome: This condition also involves short ribs and polydactyly but is often associated with other systemic features such as heart defects and cleft palate.

It's worth noting that the differential diagnosis for short-rib thoracic dysplasia 8 with or without polydactyly can be complex, and a thorough evaluation by a medical professional is necessary to determine the correct diagnosis.