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pseudoachondroplasia
Description
Pseudoachondroplasia (PSACH) is a rare genetic disorder that affects bone growth and development. The condition is characterized by short stature, with most individuals affected being significantly shorter than average.
Key Features:
- Short Stature: Individuals with pseudoachondroplasia typically have short arms and legs, which can lead to a waddling gait.
- Joint Pain and Deformity: Joint pain and deformity are common features of the condition, particularly in the lower limbs.
- Delayed Linear Growth: Pseudoachondroplasia is often associated with delayed linear growth, starting at around age 2 years.
Other Characteristics:
- A wide-based gait (waddling gait) from onset of walking
- Fatigue with extended walking or exercise
- Joint pain and deformity in the lower limbs
Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia, meaning that a single copy of the mutated gene is sufficient to cause the condition. The disorder affects cartilage growth and development, leading to the characteristic features mentioned above.
References:
- [1] Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis. (Source: ORPHA:750)
- [2-5] Other characteristic features of pseudoachondroplasia include short arms and legs; a waddling walk; joint pain in childhood that progresses to a joint disease; short stature; short arms and legs, a waddling gait; delay in linear growth starting at age 2 years. (Sources: ORPHA:750, [5], [7])
- [6] It manifests with a wide-based gait (“waddling gait”) from onset of walking and delay in linear growth starting at age 2 years that progresses to a marked short stature. (Source: [6])
- [9] Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, deformity of the lower legs and joints. (Source: [9])
Additional Characteristics
- Wide-based gait
- Short Stature
- Joint Pain and Deformity
- Delayed Linear Growth
- Fatigue with extended walking or exercise
Signs and Symptoms
Pseudoachondroplasia (PSACH) is a rare genetic disorder that affects bone growth, leading to short stature and various skeletal abnormalities. The signs and symptoms of PSACH can vary in severity and may include:
- Short arms and legs: One of the most distinctive features of PSACH is short limbs, which can be noticeable from an early age.
- Delayed crawling and walking: Children with PSACH often experience delays in reaching motor milestones, such as crawling and walking.
- Waddling walk: The short stature and limb abnormalities can result in a characteristic waddling gait.
- Joint pain at an early age: Joint pain and stiffness are common complaints among individuals with PSACH, often starting in childhood or adolescence.
- Limited range of motion at the elbows and hips: Reduced mobility in these joints is another hallmark symptom of PSACH.
According to various sources [3, 5, 7, 11], other symptoms may include:
- Skeletal abnormalities: Bow legs, hyperlordosis (excessive inward curvature of the lower back), and other deformities can occur.
- Neurological symptoms: In some cases, individuals with PSACH may experience weakness in the lower limbs, incontinence, pain in the legs, reduced sensation, or other neurological issues [6].
It's essential to note that each individual with PSACH may exhibit a unique combination of these symptoms, and their severity can vary widely. Early diagnosis and treatment can help manage related problems and improve quality of life.
References:
[3] - Short arms and legs are a common feature of pseudoachondroplasia. [5] - Delayed crawling and walking are often seen in children with PSACH. [7] - A waddling walk is characteristic of individuals with this condition. [11] - Limited range of motion at the elbows and hips is another symptom.
Additional Symptoms
- Neurological symptoms
- Skeletal abnormalities
- Short arms and legs
- Delayed crawling and walking
- Waddling walk
- Joint pain at an early age
- Limited range of motion at the elbows and hips
Diagnostic Tests
Pseudoachondroplasia (PSACH) can be diagnosed through various diagnostic tests, which are typically conducted between the ages of 1 and 4 years.
- Physical exam: A thorough physical examination is essential to identify characteristic features such as short stature, short limbs, skeletal abnormalities, and joint pain.
- X-rays: X-ray imaging is used to detect epiphyseal and metaphyseal anomalies in the bones. These findings are crucial for diagnosing PSACH.
- Arthrograms: Arthrograms may be performed to assess joint health and identify any potential issues related to pseudoachondroplasia.
- Genetic testing: Genetic testing, including COMP mutation screening, can aid in confirming a diagnosis of PSACH or multiple epiphyseal dysplasia (MED). This is particularly useful when there's a family history of the condition.
It's worth noting that a team of specialists, including orthopaedic surgeons and geneticists, may be involved in diagnosing and managing pseudoachondroplasia. Early diagnosis and intervention can help alleviate symptoms and improve quality of life for individuals affected by this condition.
References:
- [3] Pseudoachondroplasia is a type of dwarfism that starts showing in early childhood. It causes short stature, short limbs, skeletal abnormalities and joint pain.
- [5] A physical exam and diagnostic tests, including X-rays and arthrograms, are used to diagnose pseudoachondroplasia. Orthopaedic conditions of the spine and hips are also commonly seen in patients with pseudoachondroplasia.
- [6] Tests usually include X-rays and, sometimes, genetic testing. A team of specialists cares for people with pseudoachondroplasia.
- [13] Diagnosis is typically made between 1 and 4 years of age and is based on clinical examination and characteristic X-ray findings. There are usually ...
- [14] Clinical Molecular Genetics test for Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome and using Sequence analysis of the entire coding region, Uni-directional Sanger sequencing offered by MedGene.
Additional Diagnostic Tests
- Genetic testing
- X-rays
- Physical exam
- Arthrograms
Treatment
Treatment Options for Pseudoachondroplasia
Pseudoachondroplasia, a rare genetic disorder affecting bone growth, can be managed with various treatment approaches. While there is no cure for the condition, medical interventions can help alleviate symptoms and improve quality of life.
- Physical Therapy: Strengthening muscles through physical therapy can help manage muscle weakness and joint deformities associated with pseudoachondroplasia [7].
- Surgical Interventions: Corrective orthopedic surgery may be necessary to straighten bones and correct spinal deformities [4]. In some cases, surgical procedures may involve cutting bones to achieve proper alignment.
- Growth Hormone Therapy: Growth hormone therapy has been explored as a potential treatment option for pseudoachondroplasia, although its effectiveness is still being researched [10].
- Support Groups: Joining support groups can provide emotional support and connect families with others who are experiencing similar challenges.
Emerging Therapies
Recent studies have investigated the use of ER stress-reducing drugs, such as valproate, lithium, and phenylbutyric acid, to treat pseudoachondroplasia [9]. These findings suggest potential new avenues for treatment, although further research is needed to confirm their efficacy.
Multidisciplinary Care
A comprehensive care plan, involving a team of experts, including genetic counselors, orthopedic specialists, and physical therapists, can help manage the complexities of pseudoachondroplasia. This approach ensures that each child receives individualized care tailored to their specific needs [6].
While treatment options are available for pseudoachondroplasia, it is essential to note that every case is unique, and a personalized approach is crucial for effective management.
References:
[4] Transmission is autosomal dominant, but most isolated cases are due to de novo mutations. Genetic counseling may be proposed and the recurrence risk is 50%. ... Treatment is based on physiotherapy, management of the spinal deformation and corrective orthopedic surgery. [6] If you have a child with pseudoachondroplasia, you want him or her to receive comprehensive care from a team of experts. At University of Missouri Health Care, we are the region’s experts in treating skeletal dysplasia diseases. We are actively involved with national research for treatments, and ... [7] Treatments: · Physical therapy to strengthen muscles · Using the child's growth to straighten the bone with minimal surgery · Cutting the bone to straighten the ... [9] by KL Posey · 2017 · Cited by 22 — Our first therapeutic approach to treat PSACH in our MT-COMP mouse was administration of ER stress reducing, drugs valproate, lithium and phenylbutyric acid. [10] Result: support groups | growth hormone therapy | treatment of complications
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Differential Diagnosis
Pseudoachondroplasia (PSACH) is a rare genetic disorder that affects bone growth, leading to short-limbed dwarfism and other skeletal abnormalities. When diagnosing PSACH, it's essential to consider the differential diagnosis, which includes other conditions that may present similar symptoms.
Key Differential Diagnoses:
- Achondroplasia: This is the most common form of short-limbed dwarfism and can be a primary consideration in the differential diagnosis of PSACH. However, achondroplasia typically presents with characteristic craniofacial anomalies that are absent in patients with pseudoachondroplasia [3].
- Multiple Epiphyseal Dysplasia (MED): MED is another condition that may present with short-limbed dwarfism and joint pain, making it a differential diagnosis for PSACH. However, radiographic findings differ significantly between the two conditions [3].
- Spondyloepiphyseal Dysplasia Congenita: This rare genetic disorder affects bone growth and can be considered in the differential diagnosis of PSACH.
- Metatrophic Dwarfism: This is a rare form of short-limbed dwarfism that may present with similar symptoms to PSACH.
Other Conditions:
- Sponastrime Dysplasia: This is an autosomal-recessive disorder that can be considered in the differential diagnosis of PSACH.
- Metatropic Dysplasia: This is a rare genetic disorder that affects bone growth and can be considered in the differential diagnosis of PSACH.
Diagnostic Considerations:
When diagnosing pseudoachondroplasia, it's essential to consider the clinical presentation, radiographic findings, and molecular genetic analysis. Certain radiological features are essential in the differential diagnosis of PSACH, which should be considered when referring patients for molecular genetic analysis [14].
In conclusion, the differential diagnosis of pseudoachondroplasia includes a range of conditions that may present with similar symptoms. A thorough understanding of these conditions is crucial for accurate diagnosis and management.
References:
[1] - Pseudoachondroplasia is an inherited disorder of bone growth. [3] - The principle differential diagnosis is achondroplasia (see this term), but the craniofacial anomalies present in this disorder are absent in patients with pseudoachondroplasia and radiographic findings differ significantly. [7] - Differential diagnoses include battered baby syndrome, hypophosphatasia, juvenile idiopathic osteoporosis, all of which can be excluded by careful analysis of X-rays, clinical and biochemical evaluation. [14] - Certain radiological features are essential in the differential diagnosis of pseudoachondroplasia, which should be considered when referring to patients for molecular genetic analysis.
Additional Differential Diagnoses
- multiple epiphyseal dysplasia 5
- multiple epiphyseal dysplasia 4
- multiple epiphyseal dysplasia 6
- multiple epiphyseal dysplasia 1
- multiple epiphyseal dysplasia 3
- cleidocranial dysplasia
- Metatrophic Dwarfism
- Sponastrime Dysplasia
- multiple epiphyseal dysplasia 2
- metatropic dysplasia
- spondyloepiphyseal dysplasia congenita
- achondroplasia
Additional Information
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