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Ehlers-Danlos syndrome spondylodysplastic type 2
ICD-10 Codes
Related ICD-10:
Description
Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) is a rare genetic disorder that affects the connective tissues in the body. The features of EDSSPD2 include:
- Aged appearance
- Developmental delay
- Short stature
- Craniofacial disproportion
- Generalized osteopenia (softening of bones)
- Defective wound healing
- Hypermobile joints
- Hypotonic muscles (weak or floppy muscles)
- Loose but elastic skin
EDSSPD2 is caused by a mutation in the B3GALT6 gene, which codes for an enzyme involved in the production of glycosaminoglycans, important components of connective tissue. This mutation leads to a deficiency in the production of these molecules, resulting in the characteristic features of EDSSPD2.
EDSSPD2 is characterized by short stature and skeletal abnormalities such as abnormally curved (bowed) limbs [6]. Individuals with EDSSPD2 may also experience muscle weakness and joint hypermobility, particularly in the hands. The condition can be diagnosed through genetic testing, which can identify the mutation in the B3GALT6 gene.
It's worth noting that EDSSPD2 is a rare form of Ehlers-Danlos syndrome, and its symptoms can vary widely among affected individuals [4].
Additional Characteristics
- Short stature
- Developmental delay
- Aged appearance
- Craniofacial disproportion
- Generalized osteopenia (softening of bones)
- Defective wound healing
- Hypermobile joints
- Hypotonic muscles (weak or floppy muscles)
- Loose but elastic skin
Signs and Symptoms
Ehlers-Danlos syndrome (EDS) spondylodysplastic type is a rare subtype of EDS characterized by skeletal abnormalities, muscle hypotonia, and other distinct features. Based on the search results, here are some key signs and symptoms associated with this type:
- Short stature: Individuals with EDS spondylodysplastic type 2 often have short stature, which is a significant feature of this subtype [8].
- Skeletal abnormalities: Abnormally curved (bowed) limbs are common in individuals with EDS spondylodysplastic type 2. This can include kyphoscoliosis, a condition characterized by an abnormal curvature of the spine [3].
- Muscle hypotonia: Muscle weakness or hypotonia is another feature of EDS spondylodysplastic type 2, which can lead to difficulties with mobility and balance [8].
- Joint hypermobility: While joint hypermobility is a common feature in many types of EDS, it may be less pronounced in individuals with the spondylodysplastic type. However, some degree of joint laxity or instability may still be present [6].
It's essential to note that each individual with EDS spondylodysplastic type 2 may experience a unique combination and severity of symptoms. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.
References: [3] - Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis). [6] - Some features are seen across all types of EDS, including joint hypermobility, skin hyperextensibility, and tissue fragility. [8] - The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia, are also present.
Additional Symptoms
- Joint hypermobility
- Skeletal abnormalities
- Muscle hypotonia
- short stature
Diagnostic Tests
Ehlers-Danlos syndrome (EDS) spondylodysplastic type 2 is a rare and severe form of EDS characterized by short stature, skeletal abnormalities, and other systemic features. Diagnostic tests for this condition are crucial to confirm the diagnosis.
Available Tests
According to available clinical tests, there are several diagnostic tests that can be used to diagnose EDS spondylodysplastic type 2 [1]. These include:
- Genetic testing: This is a key diagnostic tool for EDS spondylodysplastic type 2. Genetic analysis can provide a molecular diagnosis of this disorder [6].
- Imaging studies: X-rays, CT scans, and other imaging modalities can help identify skeletal abnormalities associated with this condition [5].
- Physical examination: A thorough physical examination by a qualified healthcare professional is essential to assess the presence of characteristic features such as short stature, bowed limbs, and muscle weakness [5].
Genetic Testing
Genetic testing plays a crucial role in diagnosing EDS spondylodysplastic type 2. This involves analyzing genes that have been found to be associated with rare forms of EDS and overlapping conditions to look for disease-causing mutations [4]. Genetic analysis can provide a definitive diagnosis, especially when combined with clinical findings.
Other Diagnostic Tests
In addition to genetic testing, other diagnostic tests such as skin biopsies, physical exams, and imaging studies like X-rays and CT scans may be used to diagnose EDS spondylodysplastic type 2 [7].
References:
[1] Clinical tests (61 available) for Ehlers-Danlos syndrome spondylodysplastic type 2. [4] Genetic analysis to provide a molecular diagnosis of this disorder. [5] Jul 29, 2022 — The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, ... [6] Genetic analysis to provide a molecular diagnosis of this disorder. [7] Mar 29, 2024 — EDS in diagnosed with various tests, including genetic tests, skin biopsies, physical exams, and imaging such as X-rays and CT scans.
Additional Diagnostic Tests
- Skin biopsy
- Genetic testing
- Physical examination
- Imaging studies (X-rays, CT scans)
Treatment
Ehlers-Danlos syndrome (EDS) spondylodysplastic type is a genetic disorder that affects the connective tissues in the body, leading to joint hypermobility and other symptoms. While there is no cure for EDS, various treatments can help manage its manifestations.
Physical Therapy
- Exercise programs tailored to increase core and extremity muscle strength and tone are recommended [1].
- Physical therapy can also improve proprioception (awareness of body position) and joint stability [1].
Medications
- Over-the-counter pain relievers such as acetaminophen may be prescribed for managing pain [5].
- Medications for managing blood pressure may also be prescribed by a healthcare provider [5].
Other Treatments
- Physical and occupational therapies, dry needling, behavioral therapies, and complimentary therapies are among the treatments reported to be effective in managing EDS symptoms [4].
- Methods of pain management include physiotherapy, medication, cushions, compressive clothes, and braces, as well as behavioral adaptation [9].
It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help develop a tailored treatment plan that addresses the individual's specific needs.
References:
[1] Context 1: Feb 22, 2024 — Treatment of manifestations: Tailored treatment with exercise to increase core and extremity muscle strength and tone, proprioception, and joint ...
[2] Context 7: Apr 9, 2024 — Ehlers-Danlos syndrome (EDS) is an inherited condition that weakens your connective tissues, which hold parts of your body together.
[3] Context 5: Mar 29, 2024 — Your healthcare provider may prescribe medications for managing pain and blood pressure. Over-the-counter pain relievers—including acetaminophen ...
[4] Context 4: by A Hakim · 2024 · Cited by 6 — Physical and occupational therapies, dry needling, behavioral therapies, and complimentary therapies are among the treatments reported as most ...
[5] Context 5: Mar 29, 2024 — Your healthcare provider may prescribe medications for managing pain and blood pressure. Over-the-counter pain relievers—including acetaminophen ...
[9] Context 9: Methods of pain management in EDS include physiotherapy, medication, cushions, compressive clothes, and braces, as well as behavioral adaptation.
Recommended Medications
- Medications for managing blood pressure
- Acetaminophen
- paracetamol
💊 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
Ehlers-Danlos syndrome (EDS) spondylodysplastic type 2 is a rare and complex condition that requires a comprehensive differential diagnosis to rule out other potential causes. Here are some conditions that may be considered in the differential diagnosis of EDS spond
Additional Differential Diagnoses
- Lupus
- Neuromuscular disorders such as muscular dystrophy
- osteogenesis imperfecta
- dermatomyositis
- fibrodysplasia ossificans progressiva
- scleroderma
Additional Information
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- An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
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