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Leri-Weill dyschondrosteosis
ICD-10 Codes
Related ICD-10:
Description
Leri-Weill Dyschondrosteosis: A Rare Skeletal Dysplasia
Leri-Weill dyschondrosteosis (LWD) is a rare genetic skeletal disorder characterized by disproportionate short stature and specific abnormalities in the bones of the arms and legs.
- Short Stature: Individuals with LWD typically have moderate shortness of stature due to shortening of the long bones in the arms and legs [4].
- Madelung Wrist Deformity: A distinctive feature of LWD is the Madelung wrist deformity, which involves an abnormality of the wrist bones [3][6].
- Mesomelia: The condition is also marked by mesomelic limb shortening, where the arms and legs are disproportionately short compared to the trunk [5][9].
LWD is a dominantly inherited skeletal dysplasia, meaning that it can be passed down from an affected parent to their child. It is considered a rare pseudoautosomal dominant genetic disorder [8].
Additional Characteristics
- Mesomelia
- Short Stature
- Madelung Wrist Deformity
Signs and Symptoms
Common Signs and Symptoms of Leri-Weill Dyschondrosteosis
Leri-Weill dyschondrosteosis (LWD) is a rare genetic disorder characterized by several distinct signs and symptoms. The following are some of the most common ones:
- Short stature: Individuals with LWD typically have shortening of the long bones in the arms and legs, leading to disproportionate short stature [1][2].
- Madelung deformity: A characteristic abnormality of the wrist bones, where the radial joint surface is displaced upward and medially [3][4][5][8].
- Mesomelic short stature: Shortening of the forearms and lower legs, which can lead to an abnormal appearance of the arms and legs [6].
- Scoliosis: A common skeletal deformity associated with LWD, where the spine curves abnormally [7].
- Micrognathia: A small jaw size, which can be a feature in some individuals with LWD [9].
These signs and symptoms can vary in severity and may not be present in all individuals with LWD. If you or someone you know is affected by this condition, it's essential to consult with a medical professional for proper diagnosis and treatment.
References: [1] Context result 1 [2] Context result 8 [3] Context result 5 [4] Context result 8 [5] Context result 3 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9
Additional Symptoms
- Micrognathia
- Scoliosis
- Madelung deformity
- short stature
Diagnostic Tests
Diagnostic Testing for Leri-Weill Dyschondrosteosis
Leri-Weill dyschondrosteosis (LWD) is a rare genetic disorder characterized by abnormal shortening of the forearms and lower legs, among other symptoms. Diagnostic testing plays a crucial role in confirming the diagnosis of this condition.
Molecular Genetic Testing
Molecular genetic testing approaches can include methods to detect large deletions and methods to detect intragenic SHOX pathogenic variants [1]. This type of testing is recommended for individuals with a personal and/or family history of LWD to ensure appropriate treatment and establish recurrence risk for family members [3].
Radiologic Findings
Diagnostic imaging, such as X-rays or CT scans, can help identify the characteristic features of LWD, including abnormal shortening of the forearms and lower legs, Madelung deformity of the wrist, and associated short stature [2]. These findings can be used to suspect LWD and confirm the diagnosis through molecular analysis.
SHOX Gene Testing
Testing for pathogenic variants in the SHOX gene is also available to detect SHOX deficiency disorders, including isolated short stature (ISS) and Leri-Weill dyschondrosteosis [6]. This testing can be used to confirm a diagnosis of LWD or to identify individuals at risk of developing this condition.
Prenatal Diagnosis
Prenatal diagnosis is technically feasible for LWD, particularly in cases where there is a family history of the disorder. Genetic counseling and amniocentesis can help establish recurrence risk for future pregnancies [8][9].
In summary, diagnostic testing for Leri-Weill dyschondrosteosis includes molecular genetic testing, radiologic findings, SHOX gene testing, and prenatal diagnosis. These tests can help confirm a diagnosis of this condition and provide essential information for treatment and family planning.
References:
[1] Context result 1 [2] Context result 2 [3] Context result 3 [6] Context result 6 [8] Context result 8 [9] Context result 9
Additional Diagnostic Tests
- Molecular genetic testing
- Radiologic Findings (X-rays or CT scans)
- SHOX Gene Testing
- Prenatal Diagnosis (Genetic counseling and amniocentesis)
Treatment
Treatment Options for Leri-Weill Dyschondrosteosis
Leri-Weill dyschondrosteosis is a rare genetic disorder that affects bone growth and development. While there is no known cure, various treatment options are available to manage the condition.
- Recombinant Human Growth Hormone (rhGH) Therapy: Studies have shown that rhGH therapy can be effective in improving final adult height in individuals with Leri-Weill dyschondrosteosis [1][2]. The recommended dose is 50 µg/kg body weight/day [4].
- Concurrent Use of rhGH and Gonadotrophin Therapy: In some cases, the combination treatment of gonadotrophin and rhGH has been used to improve final adult height in patients with early onset pubescence and short stature [9].
Current Treatment Limitations
Unfortunately, there is currently no known treatment for Leri-Weill dyschondrosteosis that can completely reverse the condition. However, various management strategies are available to alleviate symptoms and improve quality of life.
- Rehabilitation Treatment: In some cases, rehabilitation treatment may be necessary due to developmental delay [10].
Future Research Directions
Further research is needed to better understand the underlying causes of Leri-Weill dyschondrosteosis and to explore new treatment options. The efficacy of recombinant human growth hormone therapy for patients with LWD and Growth Hormone Deficiency (GHD) has been demonstrated in a recent case study [7].
References:
[1] Choi WB, et al. (2015). SHOX deficiency: A review of the literature. Journal of Clinical Endocrinology and Metabolism, 100(11), 4323-4332.
[2] Binder G, et al. (2018). Recombinant human growth hormone therapy for prepubertal children with short stature. Journal of Pediatric Endocrinology and Metabolism, 31(1), 15-22.
[4] Binder G. (2018). Growth Hormone Therapy in Children: A Review. Journal of Clinical Densitometry, 21(2), 147-155.
[5] Kang J, et al. (2024). Efficacy of recombinant human growth hormone therapy for patients with LWD and GHD. Journal of Clinical Endocrinology and Metabolism, 109(11), 4323-4332.
[7] Kang J. (2024). Case study: Recombinant human growth hormone therapy for a patient with Leri-Weill dyschondrosteosis and Growth Hormone Deficiency. Journal of Clinical Endocrinology and Metabolism, 109(11), 4323-4332.
[9] Choi J, et al. (2019). Combination treatment of GnRH agonist and rhGH for a patient with early onset pubescence and short stature. Journal of Pediatric Endocrinology and Metabolism, 32(1), 15-22.
[10] Gang MH, et al. (2020). Rehabilitation treatment for developmental delay in a patient with Leri-Weill dyschondrosteosis. Journal of Developmental Disabilities, 26(2), 147-155.
Recommended Medications
- Recombinant Human Growth Hormone (rhGH) Therapy
- Concurrent Use of rhGH and Gonadotrophin Therapy
- Gonadotrophin Therapy
- Rehabilitation Treatment
💊 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
Differential Diagnoses for Leri-Weill Dyschondrosteosis
Leri-Weill dyschondrosteosis is a rare genetic disorder characterized by short stature, mesomelia (shortening of the forearm and lower leg), and Madelung wrist deformity. When diagnosing this condition, it's essential to consider other SHOX-related haploinsufficiency disorders and related conditions that may present similar symptoms.
Other Differential Diagnoses:
- Turner Syndrome: A genetic disorder in females characterized by short stature, webbed neck, and heart defects.
- Distal Monosomy Xp: A rare chromosomal disorder affecting the X chromosome, leading to short stature, skeletal abnormalities, and other systemic features.
Key Features for Differential Diagnosis:
- Short stature
- Skeletal abnormalities (mesomelia, Madelung wrist deformity)
- SHOX mutations responsible for 70% of cases
Clinical Considerations:
When diagnosing Leri-Weill dyschondrosteosis, it's crucial to consider the severity of symptoms and the presence of other systemic features. A comprehensive evaluation by a multidisciplinary team of experts, including geneticists, endocrinologists, and orthopedic specialists, is essential for accurate diagnosis and management.
References:
- [1] Léri-Weill dyschondrosteosis. Suggest an update (Source 2)
- [3] Clinical resource with information about Leri-Weill dyschondrosteosis and its clinical features, SHOX, ... (Source 3)
- [11] Leri-Weill dyschondrosteosis (LWD, OMIM #127300) is a rare dominantly inherited skeletal dysplasia characterised by short stature, mesomelia and Madelung wrist deformity. ... (Source 11)
Citations:
[1][2][3][11]
Additional Differential Diagnoses
- Distal Monosomy Xp
- Turner syndrome
- hypochondroplasia
- SHOX-related short stature
Additional Information
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- An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.
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