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Boomerang dysplasia
ICD-10 Codes
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Description
Boomerang Dysplasia: A Rare Lethal Skeletal Disorder
Boomerang dysplasia, also known as BOOMD, is a rare and severe form of skeletal dysplasia that affects the development of bones throughout the body. This disorder is characterized by several distinct features:
- Severe short-limbed dwarfism: Individuals with boomerang dysplasia are born with significantly shorter limbs than average.
- Dislocated joints: The joints in affected individuals are often dislocated, leading to mobility and flexibility issues.
- Club feet: Boomerang dysplasia is also associated with club feet, a condition where the feet are turned inward or upward.
- Distinctive facies: The facial features of individuals with boomerang dysplasia can be distinctive, although the exact nature of these features is not specified in available information.
Boomerang dysplasia is considered a lethal form of osteochondrodysplasia, meaning that it is typically fatal at birth or shortly thereafter. The disorder is characterized by the absence or underossification of limb bones and vertebrae, which can lead to severe skeletal dysplasia.
Key Features:
- Lethal neonatal dwarfism
- Boomerang-shaped long bones in the extremities
- Severe skeletal dysplasia
- Absence or underossification of limb bones and vertebrae
References:
- [1] A form of lethal neonatal dwarfism with boomerang shaped long bones of the extremities resulting in severe skeletal dysplasia. (Source: 9)
- [2-5,7,8] Boomerang dysplasia is a rare and severe form of skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies, absence or underossification of the limb bones and vertebrae. (Sources: 2-5,7,8)
- [6] Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed ... (Source: 6)
Additional Characteristics
- Dislocated joints
- Club feet
- Severe short-limbed dwarfism
- Distinctive facies
- Lethal neonatal dwarfism
- Boomerang-shaped long bones in the extremities
- Severe skeletal dysplasia
- Absence or underossification of limb bones and vertebrae
Signs and Symptoms
Boomerang Dysplasia Signs and Symptoms
Boomerang dysplasia, a rare lethal skeletal dysplasia, presents with several distinct signs and symptoms.
- Severe short-limbed dwarfism: Individuals affected by this condition are born with very short arms and legs [4].
- Dislocated joints: The limb bone abnormalities lead to dislocation of joints, causing further complications [3][5].
- Club feet: Affected individuals are born with inward- and upward-turning feet, a characteristic feature of boomerang dysplasia [1][7][8].
- Distinctive facies: Boomerang dysplasia is associated with distinctive facial features, including encephalocele, omphalocele, a big nose with very small nostrils, and an underdeveloped septum [6].
Additionally, other signs and symptoms may include:
- Absent radius
- Fibular hypoplasia (underdevelopment of the fibula)
- Pronounced bowing of the upper leg
These physical characteristics are a result of the disorder's impact on bone development throughout the body.
Additional Symptoms
- Dislocated joints
- Club feet
- Severe short-limbed dwarfism
- Distinctive facies
- Absent radius
- Fibular hypoplasia
- Pronounced bowing of the upper leg
Diagnostic Tests
Boomerang dysplasia, also known as FLNB-related skeletal disorder, is a rare genetic condition that affects the development of bones throughout the body.
Diagnostic tests for Boomerang dysplasia:
- Genetic testing: Genetic testing can confirm the diagnosis of Boomerang dysplasia. This involves analyzing the FLNB gene to identify any mutations or variations that may be causing the condition [4].
- Skeletal radiographs: Skeletal radiographs, also known as X-rays, can help diagnose Boomerang dysplasia by showing the characteristic skeletal abnormalities associated with the condition, such as inward- and upward-turning feet, absent radii and fibulae, hypoplastic ilia, and absent pubic bones [6][7].
- Prenatal imaging: Prenatal imaging, such as ultrasound, can also be used to diagnose Boomerang dysplasia by detecting the characteristic skeletal abnormalities in the fetus [5].
Additional diagnostic tests:
- FLNB single gene test: This test is specifically designed to detect mutations or variations in the FLNB gene that may be causing Boomerang dysplasia [9].
- Skeletal Dysplasias Core Panel: This panel includes a group of genetic tests that can help diagnose various skeletal dysplasias, including Boomerang dysplasia [9].
It's worth noting that diagnosing Boomerang dysplasia often involves a combination of prenatal imaging and genetic testing due to the severe skeletal abnormalities associated with the condition.
Additional Diagnostic Tests
- Genetic testing
- Skeletal radiographs
- Prenatal imaging
- FLNB single gene test
- Skeletal Dysplasias Core Panel
Treatment
Unfortunately, boomerang dysplasia (BD) is a rare and lethal skeletal dysplasia, which means that it is typically fatal in infancy or early childhood. As such, there are no established drug treatments for this condition.
However, based on the search results provided, it appears that some researchers have distinguished boomerang dysplasia from another similar condition called piepkorn osteochondrodysplasia [5]. This suggests that there may be some nuances in the diagnosis and treatment of skeletal dysplasias, but no specific drug treatments are mentioned.
In general, the management of skeletal dysplasias often involves a multidisciplinary approach, including orthopedic surgery, physical therapy, and other supportive care measures. However, these approaches are typically focused on alleviating symptoms and improving quality of life, rather than curing the underlying condition [6].
It's worth noting that there is some information available on the treatment of related conditions, such as achondroplasia [6]. However, this information may not be directly applicable to boomerang dysplasia.
In summary, while there are no established drug treatments for boomerang dysplasia, a multidisciplinary approach may be used to manage symptoms and improve quality of life. However, further research is needed to better understand the diagnosis and treatment of this rare condition.
References: [5] - The distinction between boomerang dysplasia and piepkorn osteochondrodysplasia suggests that there may be some nuances in the diagnosis and treatment of skeletal dysplasias. [6] - The management of skeletal dysplasias often involves a multidisciplinary approach, including orthopedic surgery, physical therapy, and other supportive care measures.
Recommended Medications
- physical therapy
- multidisciplinary approach
- orthopedic surgery
- supportive care measures
- drug
๐ Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Boomerang Dysplasia Differential Diagnosis
Boomerang dysplasia (BD) is a rare and severe form of osteochondrodysplasia, characterized by the absence or underossification of limb bones and vertebrae. When diagnosing BD, it's essential to consider other conditions that may present with similar skeletal abnormalities.
Conditions to Consider:
- Achondrogenesis: A genetically heterogeneous group of disorders, with type 1B being a recessive condition, which is often considered in the differential diagnosis for BD [7].
- Hypophosphatasia: A rare genetic disorder that affects bone mineralization and can lead to skeletal abnormalities similar to those seen in BD [1].
- Osteogenesis Imperfecta: A group of disorders characterized by fragile bones and skeletal deformities, which may be considered in the differential diagnosis for BD [1].
- Roberts Syndrome: A rare genetic disorder that affects bone growth and development, leading to skeletal abnormalities similar to those seen in BD [6].
Key Features:
- Absence or underossification of limb bones
- Thoracic hypoplasia and limb shortening with delayed ossification
- Presence of vertebral anomalies
These conditions should be considered in the differential diagnosis for Boomerang dysplasia, as they share similar skeletal abnormalities. A comprehensive diagnostic evaluation, including prenatal imaging and genetic testing, is essential to accurately diagnose BD.
References:
[1] Context 1: Additional differential diagnosis includes diseases associated with impaired ossification such achondrogenesis, hypophosphatasia, and osteogenesis imperfecta [6] Context 6: Apr 22, 2018 โ ... dysplasia, Roberts syndrome, short rib-polydactyly syndrome and thanatophoric dysplasia; Additional differential diagnosis includes diseases ... [7] Context 7: 2006 ยท Cited by 1 โ Achondrogenesis, being the most frequently made differential diagnosis in BD,1 is a genetically heterogeneous group with type 1B being a recessive condition ...
Additional Differential Diagnoses
Additional Information
- relatedICD
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- An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14.
- oboInOwl#inSubset
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- OMIM mapping confirmed by DO. [SN].
- core#notation
- DOID:0050680
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- Boomerang dysplasia
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_2256
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- http://www.w3.org/2002/07/owl#Class
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