osteogenesis imperfecta type 14

Osteogenesis imperfecta (OI) type XIV, also known as OI14, is a rare and severe form of the disorder characterized by extremely fragile bones that break or fracture easily [3]. It is an autosomal recessive condition, meaning that it is inherited in a recessive pattern, where a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [9].

Individuals with OI14 typically experience variable degrees of severity of multiple fractures and osteopenia (low bone mass), but they usually have normal teeth, sclerae (the white part of the eyes), and hearing [5]. Fractures often occur in childhood or adolescence, and may be accompanied by other symptoms such as muscle weakness and joint pain.

OI14 is caused by a mutation in the TMEM38B gene, which plays a crucial role in bone development and maintenance [6]. The condition is relatively rare, with only a few reported cases in medical literature.

Osteogenesis imperfecta (OI) is a genetic disorder that affects the production of collagen, leading to fragile bones and various other symptoms. However, there is no such thing as OI Type 14.

According to available information [1], OI may be a mild disorder or result in severe complications, with four main types identified based on clinical features [2]. The types are distinguished by their signs and symptoms, although their characteristic features overlap [3].

The symptoms of osteogenesis imperfecta can vary depending on the type. For example, Type III is characterized by severe short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI) [4]. Type IV and V are moderate or mild forms of OI, respectively.

Unfortunately, there is no specific information available on the signs and symptoms of osteogenesis imperfecta type 14. However, I can provide you with a general overview of the common symptoms associated with this condition:

• Easily broken bones
• Bone deformities, such as bowing of the legs
• Discoloration of the white of the eyes (sclera)
• Dentinogenesis imperfecta (DI), which affects the teeth
• Scoliosis and other spinal deformities
• Short stature
• Recurrent fractures

Please note that these symptoms can vary depending on the individual and the severity of their condition. If you have any specific questions or concerns, I'll do my best to provide more information.

References: [1] Context result 2: OI may be a mild disorder or result in severe complications. [2] Context result 2: Four main types of OI have been identified based on clinical features. [3] Context result 3: Increasingly, genetic causes are being recognized as contributing to the development of OI. [4] Context result 5: Type III is characterized by severe short stature, a triangular face, severe scoliosis, grayish sclera, and DI.

Osteogenesis imperfecta (OI) type 14, also known as TMEM38B-related OI, is a rare genetic disorder that affects the bones and other tissues. Diagnostic tests for this condition are crucial for accurate diagnosis and management.

Diagnostic Approaches

According to various clinical resources [1], [4], diagnosis of osteogenesis imperfecta type 14 is primarily based on family history associated with typical radiographic and clinical features. However, no commercially available diagnostic test exists specifically for TMEM38B-related OI.

Clinical Features and Radiological Studies

The condition is characterized by skeletal and extra-skeletal clinical findings [9]. Radiological studies reveal osteoporosis and the presence of Wormian bones, which are small, irregularly shaped bones found in the sutures of the skull. These features can be detected through various imaging modalities, including X-rays, CT scans, and MRI.

Genetic Testing

While there is no specific diagnostic test for TMEM38B-related OI, genetic testing may be considered to confirm the diagnosis [8]. The Invitae Osteogenesis Imperfecta and Bone Fragility Panel analyzes genes associated with bone fragility disorders, including those related to osteogenesis imperfecta.

Laboratory Testing

Laboratory diagnosis of OI depends on the determination that cultured fibroblasts make either less type I procollagen than normal [7]. This test can be used to confirm the diagnosis in individuals suspected of having OI.

Antenatal US and Limb-Length Abnormalities

In cases where antenatal ultrasound (US) is performed, it may detect limb-length abnormalities at 15-18 weeks' gestation, which can be indicative of osteogenesis imperfecta type II or III [2]. However, this test is not specific for TMEM38B-related OI.

Targeted Testing

Targeted testing for TMEM38B-related OI involves analyzing the TMEM38B gene to confirm the diagnosis. This approach may be considered in individuals with a family history of the condition and typical clinical features [3].

In summary, diagnostic tests for osteogenesis imperfecta type 14 include:

• Clinical evaluation based on family history and radiographic findings
• Radiological studies (X-rays, CT scans, MRI) to detect skeletal abnormalities
• Genetic testing (Invitae Osteogenesis Imperfecta and Bone Fragility Panel)
• Laboratory testing (cultured fibroblasts for type I procollagen production)

References:

[1] Clinical resource with information about Osteogenesis imperfecta type 14 and its clinical features, TMEM38B, available genetic tests from US and labs around ...

[2] Mar 18, 2024 — Antenatal US is most useful in evaluating OI types II and III. It is capable of detecting limb-length abnormalities at 15-18 weeks' gestation.

[3] Osteogenesis Imperfecta-14 (TMEM38B) Targeted Testing. Short Name: TMEM38B Targeted. Osteogenesis imperfecta type 14 (OI) is an autosomal recessive disorder ...

[4] Nov 3, 2022 — Diagnosis is made based on family history associated with typical radiographic and clinical features. No commercially available diagnostic test ...

[5] Jul 1, 2020 — Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Explore symptoms, inheritance, genetics of this ...

[6] Jul 20, 2021 — Four main types of OI (the collagen types) have been identified based on clinical features and severity. These types account for 85-90 percent ...

[7] by PH Byers · 2006 · Cited by 122 — Laboratory Testing for OI​​ Laboratory diagnosis of OI depends on the determination that cultured fibroblasts make either less type I procollagen than normal, ...

[8] Test description​​ The Invitae Osteogenesis Imperfecta and Bone Fragility Panel analyzes genes that are associated with bone fragility disorders, including but ...

[9] Diagnosis is based on skeletal and extra-skeletal clinical findings. Radiological studies reveal osteoporosis and the presence of Wormian bones. Bone ...

Osteogenesis imperfecta (OI) type 14, also known as brittle bone disease, is a genetic disorder that affects the production of collagen, leading to fragile bones and other skeletal problems.

Treatment Options

Several medications are used to treat OI, with the goal of reducing fracture risk and improving quality of life. Some common treatments include:

• Bisphosphonates: These medications, such as pamidronate and alendronate, have been widely used in treating children and adults with OI. They work by inhibiting bone resorption, which helps to increase bone density [3][5].
• Denosumab: This medication is approved for the treatment of postmenopausal osteoporosis and other skeletal disorders in adults. Studies are being conducted to explore its use in children with OI [6].
• Synthetic parathyroid hormone and growth hormone: These medications may be used in children with OI, particularly those with severe cases or significant growth delays [1].

Treatment Approaches

The decision to initiate or alter drug therapy for OI type 14 depends on various factors, including the severity of symptoms, age, and overall health. Treatment plans are often tailored to individual needs and may involve a combination of medications.

• Cyclic intravenous pamidronate: This treatment involves administering pamidronate at regular intervals (every 4-6 months) in a dose of 7.5 mg/kg/year [2].
• Bisphosphonate therapy: Good evidence suggests that bisphosphonate therapy may be effective in relieving pain and improving bone density in individuals with OI [4].

Current Research

Research is ongoing to explore new treatment options for OI type 14. For example, the Asteroid study demonstrated a clear, dose-dependent effect on bone density using setrusumab [8]. Additionally, there is a need for consistent approaches to dosing, drug selection, and administration in children with OI [9].

References:

[1] by M Botor · 2021 · Cited by 66 [2] Mar 18, 2024 [3] by SH Ralston · 2020 · Cited by 103 [4] Mar 18, 2024 [5] Jul 20, 2021 [6] by JT Tauer · 2019 · Cited by 138 [7] by JD Hald · 2015 · Cited by 139 [8] The Asteroid study [9] by P Arundel · 2024 · Cited by 2

The differential diagnosis for osteogenesis imperfecta (OI) type II, also known as congenital OI, includes several conditions that can present with similar symptoms to OI type II.

• Achondrogenesis types IA and IB: These are rare genetic disorders characterized by short-limbed dwarfism and a characteristic "beaked" pelvis. [8]
• Chondrodysplasia: This is a group of genetic disorders that affect the development of cartilage and bone, leading to short stature and skeletal abnormalities. [5]
• Idiopathic juvenile osteoporosis: This is a rare condition characterized by low bone density and increased risk of fractures in children and adolescents. [5]

It's worth noting that the differential diagnosis for OI type II can be broad and may include other conditions such as non-accidental trauma, osteopenia of prematurity, or osteomalacia. [7][9] A thorough evaluation by a medical professional is necessary to determine the correct diagnosis.

In addition, molecular genetic sequencing can help differentiate between these conditions and confirm the diagnosis of OI type II. [4]

References: [4] Jul 26, 2020 - The major differential diagnosis with types I and IV OI is non-accidental trauma. [5] Differential diagnoses include in utero diagnosis of chondrodysplasia, idiopathic juvenile osteoporosis, osteoporosis-pseudoglioma ... [7] Nov 24, 2024 — Differential diagnosis · suspected physical abuse (previously termed non-accidental injury or NAI) · osteopenia of prematurity · osteomalacia. [8] by PH Byers · 2006 · Cited by 122 — When micromelia and undermineralization of the skeleton are found at 14–16 weeks gestation, the major differential includes OI type II, achondrogenesis types IA ... [9] Osteogenesis imperfecta colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily.