4 free views remaining today
lethal congenital contracture syndrome 4
ICD-10 Codes
Related ICD-10:
Description
Lethal Congenital Contracture Syndrome 4 (LCCS4) is a severe form of neuromuscular arthrogryposis characterized by contractures leading to various degrees of immobility and disability [4]. It is an autosomal recessive disorder, meaning that it is inherited in an autosomal recessive pattern, where a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [1].
The symptoms of LCCS4 typically involve contractures affecting two or more areas of the body, with least involvement of the proximal joints. This can result in total immobility of a fetus, detectable at around the 13th week of pregnancy [5]. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of disability.
LCCS4 is caused by a mutation in the MYBPC1 gene, which codes for a protein involved in muscle contraction. This mutation leads to degeneration of anterior horn neurons and extreme skeletal muscle weakness [3]. The condition is highly lethal, with most affected individuals not surviving beyond birth or early infancy.
In summary, LCCS4 is a severe and often fatal neuromuscular disorder characterized by congenital contractures, immobility, and disability. It is inherited in an autosomal recessive pattern and caused by a mutation in the MYBPC1 gene.
References: [1] - [Context result 7] [3] - [Context result 3] [4] - [Context result 8] [5] - [Context result 5]
Additional Characteristics
- autosomal recessive disorder
- Lethal Congenital Contracture Syndrome 4
- mutation in the MYBPC1 gene
- severe neuromuscular disorder
- congenital contractures
- immobility and disability
- extreme skeletal muscle weakness
Signs and Symptoms
Lethal Congenital Contracture Syndrome 4 (LCCS4) Signs and Symptoms
LCCS4 is a severe form of neuromuscular arthrogryposis characterized by contractures leading to various degrees of flexion or extension limitations evident at birth. The symptoms of LCCS4 can be quite severe and include:
- Contractures: Contractures affecting two or more areas of the body, with least involvement of the proximal joints [2][4].
- Severe Hypotonia: Affected individuals show decreased fetal movements and are usually born with congenital contractures consistent with arthrogryposis multiplex congenita (AMC) [7].
- Respiratory Insufficiency: Most affected individuals experience severe respiratory insufficiency at birth, which can be life-threatening [8].
- Lack of Reflexes: Affected individuals often lack reflexes and may have retinal hemorrhages [8].
- Flexion or Extension Limitations: The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth [1][9].
It's worth noting that LCCS4 is a rare and severe condition, and the symptoms can vary in severity from one individual to another. However, in most cases, the symptoms are quite severe and can be life-threatening.
References: [1] Context result 5 [2] Context result 2 [4] Context result 4 [7] Context result 3 [8] Context result 8 [9] Context result 9
Additional Symptoms
- Contractures
- Severe Hypotonia
- Respiratory Insufficiency
- Lack of Reflexes
- Flexion or Extension Limitations
Diagnostic Tests
Diagnostic Tests for Lethal Congenital Contracture Syndrome
Lethal congenital contracture syndrome (LCCS) is a rare and severe genetic disorder characterized by total fetal akinesia. Diagnosing this condition can be challenging, but several diagnostic tests are available to confirm the presence of LCCS.
Clinical Genetic Tests
According to search results [2], clinical genetic tests offered by HNL Genomics Connective Tissue Gene Tests for conditions (13) include Lethal congenital contracture syndrome 1. These tests can help identify the genetic mutations responsible for LCCS.
Molecular Genetics Tests
Search results [1] mention that molecular genetics tests, including targeted variant analysis (8), deletion/duplication, and other specific tests, are available to diagnose LCCS. These tests can provide a molecular diagnosis of this disorder.
Recommended Diagnostic Approach
According to search results [4] and [5], genetic analysis is recommended for individuals with a personal and/or family history of LCCS to ensure an accurate molecular diagnosis.
Other Relevant Information
Search results [3] describe Lethal congenital contracture syndrome as a rare group of arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle atrophy, and other related symptoms.
Quality Control Measures
Internal proficiency testing is conducted biannually in compliance with all CAP regulations for some tests [7]. This ensures the accuracy and reliability of diagnostic results.
References: [1] - Search result 1 [2] - Search result 2 [3] - Search result 3 [4] - Search result 4 [5] - Search result 5 [7] - Search result 7
Additional Diagnostic Tests
- Targeted variant analysis
- Molecular genetics tests
- Clinical genetic tests
- duplication test
- Other specific molecular genetics tests
Treatment
Treatment Options for Lethal Congenital Contracture Syndrome 4 (LCCS4)
Unfortunately, there is no specific drug treatment available for Lethal Congenital Contracture Syndrome 4 (LCCS4). However, various treatment tools are used to manage the condition.
- Rehabilitation: This includes physiotherapy, manipulation of contractures, and other interventions to improve mobility and reduce muscle stiffness. [1]
- Capsulotomy: A surgical procedure that can help improve passive elbow flexion, active flexion by triceps, or both. [2]
It's essential to note that the treatment for LCCS4 is primarily focused on managing symptoms and improving quality of life, rather than curing the condition.
Current Research and Future Directions
Research in this area is ongoing, with studies exploring various experimental interventions to improve patient outcomes. Animal models are being used to study potential treatments, which may lead to new therapeutic options in the future. [3]
However, at present, there is no specific drug treatment available for LCCS4.
References:
[1] Desai et al. (2020) - A variety of treatment tools are used, including physiotherapy and manipulation of contractures. [Context #4] [2] Desai et al. (2020) - Capsulotomy is a surgical procedure that can help improve passive elbow flexion, active flexion by triceps, or both. [Context #10] [3] Whittle et al. (2021) - Animal models are being used to study experimental interventions that may improve patient quality of life and outcome. [Context #6]
Recommended Medications
- No specific drug treatment available for LCCS4
- Rehabilitation including physiotherapy, manipulation of contractures
- Capsulotomy
💊 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
Lethal Congenital Contracture Syndrome (LCCS) 4, also known as Pena-Shokeir syndrome type II, is a rare and severe genetic disorder characterized by multiple congenital contractures, hypotonia, and other systemic features. When considering the differential diagnosis of LCCS-4, several conditions should be taken into account:
- Pena-Shokeir syndrome: This is a group of disorders that share similar clinical features with LCCS-4, including congenital contractures, hypotonia, and characteristic facial features [7].
- Lethal Congenital Contracture Syndrome (LCCS): As mentioned earlier, LCCS is a broad group of disorders characterized by congenital limb contractures. The clinical presentation can vary widely among individuals with different forms of LCCS [6].
- Distal Arthrogryposis: This condition is also known as lethal congenital contracture syndrome and presents with severe generalized contractures, along with other typical features such as incomplete lung development [2].
- Arthrogryposis Multiplex Congenita (AMC): AMC is a heterogeneous condition characterized by multiple joint contractures evident from birth. It can be defined as joint contractures in two or more areas of the body and is present in 1 in 3000 live births [10].
Other conditions that may be considered in the differential diagnosis of LCCS-4 include:
- Muscular dystrophy: Certain forms of muscular dystrophy, such as Duchenne muscular dystrophy, can present with muscle weakness and contractures.
- Neuromuscular disorders: Conditions like spinal muscular atrophy or congenital myopathies may also be considered in the differential diagnosis.
It is essential to note that a comprehensive evaluation by a multidisciplinary team of healthcare professionals, including geneticists, pediatricians, and radiologists, is necessary for an accurate diagnosis.
Additional Differential Diagnoses
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0060654
- oboInOwl#hasDbXref
- MIM:614915
- IAO_0000115
- A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- RO_0004019
- http://purl.obolibrary.org/obo/HP_0001197
- relatedICD
- http://example.org/icd10/S24.119
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1639
- owl#annotatedSource
- t341098
- core#notation
- DOID:0060654
- core#exactMatch
- MIM:614915
- rdf-schema#label
- lethal congenital contracture syndrome 4
- rdf-schema#subClassOf
- t341359
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.