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lethal congenital contracture syndrome 3
ICD-10 Codes
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Description
Lethal Congenital Contracture Syndrome 3 (LCCS3) Overview
Lethal Congenital Contracture Syndrome 3, also known as LCCS3, is a rare and severe autosomal recessive disorder. It is characterized by multiple joint contractures, muscle wasting, and atrophy [5]. This condition is often lethal during the neonatal period in most cases [7].
Key Features of LCCS3
- Severe joint contractures affecting two or more areas of the body [9]
- Micrognathia (small jaw) [7]
- Anterior horn cell degeneration and skeletal muscle atrophy [7]
- Total immobility of a fetus, detectable at around the 13th week of pregnancy [8]
Genetic Basis
LCCS3 is an autosomal recessive genetic disorder, meaning that it requires a mutation in both copies of the responsible gene (one from each parent) to manifest. The exact genetic cause of LCCS3 has not been identified.
Prognosis and Treatment
Unfortunately, LCCS3 is often lethal during the neonatal period. There is no known treatment or cure for this condition.
References: [5] - Lethal congenital contracture syndrome 3 is a rare autosomal recessive disorder characterized by severe joint contractures, muscle wasting, and atrophy... [7] - The phenotype, which is lethal during the neonatal period in most cases, is characterized by multiple joint contractures, micrognathia, anterior horn atrophy in... [8] - an autosomal recessive genetic disorder characterized by total immobility of a fetus, detectable at around the 13th week of pregnancy. [9] - Most symptoms involve contractures affecting two or more areas of the body with least involvement of the proximal joints. It is highly lucid...
Additional Characteristics
- muscle wasting
- micrognathia
- Lethal Congenital Contracture Syndrome 3 (LCCS3)
- multiple joint contractures
- atrophy
- anterior horn cell degeneration and skeletal muscle atrophy
- total immobility of a fetus, detectable at around the 13th week of pregnancy
- severe joint contractures affecting two or more areas of the body
Signs and Symptoms
Lethal congenital
Additional Symptoms
- Renal dysplasia
- Intellectual disability
- Skeletal deformities
- Congenital heart defects
- Craniofacial abnormalities
Diagnostic Tests
Lethal congenital contracture syndrome type 3 (LCCS3) is a rare and severe form of arthrogryposis, characterized by multiple joint contractures with significant clinical features. Diagnostic tests are crucial in providing a molecular diagnosis for individuals with a personal and/or family history of this disorder.
Recommended Diagnostic Tests:
- Targeted variant analysis [1]
- Mutation scanning of select exons [2]
- Deletion/duplication analysis [3]
- Sequence analysis of the gene responsible for LCCS3 [4]
These tests are designed to identify specific genetic mutations associated with LCCS3, ensuring an accurate diagnosis and enabling healthcare professionals to develop a personalized treatment plan.
Importance of Genetic Analysis:
Genetic analysis is essential in diagnosing LCCS3, as it allows for the identification of specific genetic mutations responsible for the disorder. This information can be used to provide a molecular diagnosis, which is critical in ensuring that individuals with a personal and/or family history of this disorder receive appropriate care and management [5].
References:
- [1] Molecular Genetics Tests
- [2] Targeted variant analysis (5)
- [3] Deletion/duplication analysis (9)
- [4] Sequence analysis of the gene responsible for LCCS3 (7)
- [5] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis and personalized treatment plan (5, 7)
Additional Diagnostic Tests
- Targeted variant analysis
- duplication analysis
- Mutation scanning of select exons
- Sequence analysis of the gene responsible for LCCS3
Treatment
Treatment Overview
Lethal congenital contracture syndrome type 3 (LCCS3) is a rare and severe autosomal recessive disorder characterized by multiple joint contractures, muscle wasting, and atrophy. While there is no cure for LCCS3, various treatment options are available to manage the symptoms and improve the quality of life for affected individuals.
Pharmaceutical Therapy
According to search results [2], patients with LCCS3 are normally managed with pharmaceutical therapy, which may include medications such as:
- Muscle relaxants to reduce muscle spasms and stiffness
- Pain management medications to alleviate pain and discomfort
- Respiratory support medications to help manage respiratory issues
Supplemental Oxygen Therapy
In addition to pharmaceutical therapy, supplemental oxygen therapy may be necessary for patients with LCCS3 who experience respiratory difficulties [2].
Other Treatment Options
While specific treatment options are not mentioned in the search results provided, it is likely that a multidisciplinary team of healthcare professionals, including pediatricians, orthopedic specialists, and physical therapists, would work together to develop a comprehensive treatment plan for individuals with LCCS3.
Important Note
It's essential to consult with a healthcare professional for medical advice and treatment [3]. They can provide personalized guidance and care based on the individual's specific needs and circumstances.
Recommended Medications
- Muscle relaxants
- Pain management medications
- Respiratory support medications
💊 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
Based on the provided context, here are some potential differential diagnoses for Lethal Congenital Contracture Syndrome 3 (LCCS3):
- Arthrogryposis: This is a group of rare disorders characterized by joint contractures in two or more areas of the body. Arthrogryposis can present with similar symptoms to LCCS3, including joint stiffness and limited mobility [8].
- Distal arthrogryposis and lethal congenital contracture syndromes: This broad group of disorders shares congenital limb contractures in common, which can be a feature of LCCS3. However, the severity and extent of contractures may differ between these conditions [6].
- Lethal Congenital Contracture Syndromes (LCCS): As a broader category, LCCS includes several subtypes that share similar features with LCCS3, such as early fetal hydrops and akinesia. However, the specific characteristics of each subtype may differ [7].
- Gordon syndrome: This is a rare condition characterized by cleft palate, finger contractures, and clubfoot. While it shares some similarities with LCCS3, Gordon syndrome typically presents with distinct features that differentiate it from LCCS3 [4].
It's essential to note that differential diagnosis for LCCS3 would require a comprehensive evaluation of the individual's symptoms, medical history, and genetic testing results. A healthcare professional should be consulted for an accurate diagnosis and treatment plan.
References: [4] - Type III (Gordon syndrome) - Cleft palate, finger contractures, clubfoot. [6] - Distal arthrogryposis and lethal congenital contracture syndromes describe a broad group of disorders that share congenital limb contractures in common. [7] - Lethal congenital contracture syndrome (OMIM 253310) (9q34) - This is characterized by early fetal hydrops and akinesia, Pena-Shokeir phenotype ... [8] - Arthrogryposis or arthrogryposis multiplex congenita describes joint contractures in two or more areas of the body and is present in 1 in 3000 live births.
Additional Differential Diagnoses
- Arthrogryposis
- Distal arthrogryposis and lethal congenital contracture syndromes
- Lethal Congenital Contracture Syndromes (LCCS)
- Gordon syndrome
Additional Information
- relatedICD
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- A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
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- Israeli Bedouin type B multiple contracture syndrome
- oboInOwl#inSubset
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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.