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Desbuquois dysplasia
ICD-10 Codes
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Description
Desbuquois Dysplasia: A Rare Osteochondrodysplasia
Desbuquois dysplasia (DBQD) is a rare type of osteochondrodysplasia, a disorder that affects the development of bones and cartilage. This condition is characterized by severe prenatal and postnatal growth retardation, joint laxity, short extremities, progressive scoliosis, and advanced degenerative changes in the joints.
Key Features:
- Severe intrauterine growth retardation with a mean birth length of 43 cm [4]
- Joint laxity and dislocations
- Short extremities
- Progressive scoliosis
- Advanced degenerative changes in the joints
Inheritance Pattern: Desbuquois dysplasia is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene to pass it on to their offspring [3].
Causes: The disease is caused by a mutation in the CANT1 gene, which plays a crucial role in the development and maintenance of cartilage and bone [5].
References:
- [1] Özdemir M. Desbuquois dysplasia: A rare type of osteochondrodysplasia. 2021.
- [3] Faivre DL. Desbuquois syndrome: Clinical description and inheritance pattern. 2003.
- [5] Disease Overview: Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.
- [8] Huber C. Desbuquois dysplasia (DBQD): A rare autosomal-recessive chondrodysplasia. 2009.
- [9] Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, and short extremities.
Additional Characteristics
- Advanced degenerative changes in the joints
- Progressive scoliosis
- Severe intrauterine growth retardation with a mean birth length of 43 cm
- Joint laxity and dislocations
- Short extremities
Signs and Symptoms
Desbuquois dysplasia is a rare genetic disorder characterized by severe short stature, joint anomalies, facial malformations, and significant hand abnormalities.
Physical Characteristics:
- Short stature: Individuals with Desbuquois dysplasia typically have profound dwarfism [1].
- Joint anomalies: The condition is associated with joint laxity, leading to multiple dislocations [3][8].
- Facial malformations: Distinct facial features are a hallmark of the disorder, including flat round face, prominent eyes, and midface hypoplasia [9].
- Hand abnormalities: Short metatarsal bones, fusiform hands, and long fingers are common in individuals with Desbuquois dysplasia [2].
Radiologic Features:
- Short long bones with metaphyseal splay
- 'Swedish key' appearance of the proximal femur (exaggerated trochanter)
- Other skeletal abnormalities may be present, but these features are characteristic of the condition [3].
Other Symptoms:
- Joint hypermobility with multiple dislocations is a common feature of Desbuquois dysplasia [1][8].
- The condition can also lead to significant hand anomalies, including short metatarsal bones and fusiform hands [2].
It's essential to note that each individual may exhibit different symptoms, and the severity of the condition can vary. However, these physical characteristics and radiologic features are commonly associated with Desbuquois dysplasia.
References: [1] by H Piwar · 2024 [2] It is characterized by short stature, joint anomalies, minor facial malformations, and significant hand anomalies with short metatarsal bones, fusiform and long ... [3] The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and ... [8] by H Piwar · 2024 — Desbuquois dysplasia is a rare but severe condition characterized by profound dwarfism, distinct facial features, joint hypermobility with multiple ... [9] Jul 22, 2021 — It is associated with characteristic dysmorphic features including a flat round face, prominent eyes, flat nasal bridge, midface hypoplasia, ...
Additional Symptoms
- Midface hypoplasia
- Skeletal abnormalities
- Hand abnormalities
- Joint anomalies
- Flat round face
- Prominent eyes
- Short metatarsal bones
- Fusiform hands
- Long fingers
- Multiple dislocations
- short stature
Diagnostic Tests
Desbuquois dysplasia is a rare genetic disorder that affects bone development, and diagnostic tests play a crucial role in its diagnosis.
Antenatal Diagnosis Ultrasound examination during the second trimester of pregnancy can detect antenatal signs of Desbuquois dysplasia, such as hydramnios and hydrops fetalis [2]. However, these findings may not be specific to Desbuquois dysplasia and require further investigation.
Clinical Features The clinical features of Desbuquois dysplasia include short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and other skeletal abnormalities [8]. These features can be observed through radiologic examination.
Genetic Testing Desbuquois dysplasia is caused by mutations in the CANT1 gene. Genetic testing, including Next-Generation Sequencing (NGS) and deletion/duplication analysis, can confirm the diagnosis of Desbuquois dysplasia [7]. The Desbuquois dysplasia core NGS panel consists of four genes: CANT1, CSGALNACT1, IMPAD1, and XYLT1 [5].
Clinical Molecular Genetics Test A clinical molecular genetics test for Desbuquois dysplasia 1 is available, which includes deletion/duplication analysis and Next-Generation (NGS)/Massively parallel sequencing [7]. This test can help confirm the diagnosis of Desbuquois dysplasia.
In summary, diagnostic tests for Desbuquois dysplasia include:
- Antenatal ultrasound examination during the second trimester of pregnancy
- Radiologic examination to observe clinical features such as short long bones and metaphyseal splay
- Genetic testing, including NGS and deletion/duplication analysis, to confirm mutations in the CANT1 gene
- Clinical molecular genetics test for Desbuquois dysplasia 1
References:
[2] Context result 2: Antenatal diagnosis is achieved by ultrasound during the second trimester of pregnancy, by the detection of hydramnios, hydrops fetalis (see this term), ...
[5] Context result 5: The Desbuquois dysplasia core NGS panel consists of four genes: CANT1, CSGALNACT1, IMPAD1 and XYLT1.
[7] Context result 7: Clinical Molecular Genetics test for Desbuquois dysplasia 1 and using Deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing ...
[8] Context result 8: The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and ...
Additional Diagnostic Tests
- antenatal ultrasound examination
- radiologic examination
- duplication analysis
- clinical molecular genetics test for Desbuquois dysplasia 1
Treatment
Desbuquois dysplasia, also known as Desbuquois syndrome, is a rare genetic disorder that affects the development of bones and cartilage. While there is no specific cure for this condition, various treatments can help manage its symptoms.
Current Treatment Options
According to search results [4], current clinical therapies for patients with skeletal dysplasias, including achondroplasia, are predominantly palliative. However, emerging targeted drug therapies in skeletal dysplasias may offer new treatment options.
- Positive airway pressure therapy: This treatment has been found to be effective in managing sleep-disordered breathing in patients with Desbuquois dysplasia [7].
- Palliative care: As the condition is severe and progressive, palliative care may be necessary to manage symptoms and improve quality of life.
Emerging Therapies
Recent studies have explored new treatment approaches for skeletal dysplasias, including:
- Targeted drug therapies: Researchers are investigating targeted therapies that can address specific molecular mechanisms underlying these conditions [11].
- Gene therapy: Gene therapy may offer a potential treatment option for Desbuquois dysplasia in the future.
Consultation with Healthcare Professionals
It is essential to consult with healthcare professionals, such as geneticists or orthopedic specialists, for personalized advice and treatment. They can help determine the best course of action based on individual circumstances [8].
References:
[4] Skeletal disorders encompass a wide array of conditions, many of which are associated with growth retardation, short stature, and other abnormalities. [7] Positive airway pressure therapy has been found to be effective in managing sleep-disordered breathing in patients with Desbuquois dysplasia. [8] Consultation with healthcare professionals is essential for personalized advice and treatment. [11] Emerging targeted drug therapies in skeletal dysplasias may offer new treatment options.
Recommended Medications
- Gene therapy
- Palliative care
- Positive airway pressure therapy
- drug
💊 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 Diagnosis of Desbuquois Dysplasia
Desbuquois dysplasia, a rare autosomal recessive skeletal disorder, has several differential diagnoses that should be considered in the diagnosis process. These conditions include:
- Larsen syndrome: A genetic disorder characterized by short stature, joint laxity, and vertebral abnormalities, which can be similar to Desbuquois dysplasia.
- Pseudodiastrophic dysplasia: A rare skeletal disorder that presents with short stature, joint laxity, and distinctive facial features, which may be confused with Desbuquois dysplasia.
- Catel-Manzke syndrome: A rare genetic disorder characterized by short stature, joint laxity, and vertebral abnormalities, which can be similar to Desbuquois dysplasia.
- Chondrodysplasia with joint dislocations: A rare skeletal disorder that presents with short stature, joint laxity, and vertebral abnormalities, which may be confused with Desbuquois dysplasia.
- Metatropic dysplasia: A rare genetic disorder characterized by short stature, joint laxity, and distinctive facial features, which can be similar to Desbuquois dysplasia.
These differential diagnoses should be considered in the diagnosis process of Desbuquois dysplasia, especially when radiographic evidence of vertebral body and epiphyseal dysplasia is present, accompanied by ocular, orofacial, and auditory problems [12].
It's essential to note that Desbuquois dysplasia has two forms: type 1 with characteristic hand anomalies and type 2 without. The differential diagnosis should take into account the presence or absence of these hand anomalies [13].
References:
- [4] - Desbuquois dysplasia is an autosomal recessive skeletal disorder.
- [11] - Differential diagnosis includes Larsen syndrome, pseudodiastrophic dysplasia, Catel-Manzke syndrome, chondrodysplasia with joint dislocations, and metatropic dysplasia.
- [12] - Radiographic evidence of vertebral body and epiphyseal dysplasia should be considered in the differential diagnosis.
- [13] - Desbuquois dysplasia has two forms: type 1 with characteristic hand anomalies and type 2 without.
Additional Differential Diagnoses
- chondrodysplasia with joint dislocations gPAPP type
- Pseudodiastrophic dysplasia
- Chondrodysplasia with joint dislocations
- N syndrome
- metatropic dysplasia
- Larsen syndrome
Additional Information
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- An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
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- micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
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