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lethal congenital contracture syndrome 2
ICD-10 Codes
Related ICD-10:
Description
Lethal Congenital Contracture Syndrome 2 (LCCS2) is a rare and severe genetic disorder characterized by multiple congenital contractures, muscle wasting, and other systemic abnormalities.
The main features of LCCS2 include:
- Severe multiple congenital contractures: This refers to the permanent shortening or tightening of muscles and tendons that can cause joints to become fixed in place.
- Muscle wasting: The muscles affected by the contractures may also be wasted or underdeveloped.
- Anterior horn cell degeneration: This is a type of nerve damage that affects the motor neurons responsible for muscle movement.
- Skeletal abnormalities: LCCS2 can also involve abnormalities of the skeletal system, such as shortening or fusion of bones.
LCCS2 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The disorder is usually fatal and typically presents at birth or shortly after.
It's worth noting that LCCS2 is one of several related conditions known as lethal congenital contracture syndromes, which are characterized by similar features but distinct genetic causes.
Additional Characteristics
- Skeletal abnormalities
- Muscle wasting
- Severe multiple congenital contractures
- Anterior horn cell degeneration
Signs and Symptoms
Lethal Congenital Contracture Syndrome 2 (LCCS2) is a rare arthrogryposis syndrome characterized by multiple congenital contractures, typically affecting two or more areas of the body with minimal involvement of the proximal joints [4][6]. The clinical features of LCCS2 include:
- Abnormality of metabolism/homeostasis: This can manifest as edema, abnormality of prenatal development or birth, decreased fetal movement, and polyhydramnios [1].
- Multiple congenital contractures: These are typically extended elbows, which is a hallmark feature of LCCS2 [2][6]. Other areas affected may include the knees, hips, and spine.
- Micrognathia and craniofacial anomalies: Cleft palate, cardiac defects, and an enlarged urinary bladder at birth have also been reported in individuals with LCCS2 [3].
- Fetal akinesia: This refers to a characteristic pattern of malpositions recognizable even in severely macerated fetuses, including club feet and hyperextension of the joints [5].
It's worth noting that LCCS2 is an autosomal recessive disorder, meaning that it is inherited in an autosomal recessive pattern. The symptoms of LCCS2 are typically severe and can be life-threatening.
References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6
Additional Symptoms
- cleft palate
- micrognathia
- abnormality of prenatal development or birth
- decreased fetal movement
- polyhydramnios
- extended elbows
- knee contractures
- hip contractures
- spine contractures
- craniofacial anomalies
- cardiac defects
- enlarged urinary bladder
- club feet
- hyperextension of the joints
- edema
Diagnostic Tests
Diagnostic Tests for Lethal Congenital Contracture Syndrome 2
L
Additional Diagnostic Tests
- Muscle biopsy
- Physical examination
- Imaging studies (X-rays, ultrasound)
- Genetic testing (DNA sequencing)
Treatment
Treatment Options for Lethal Congenital Contracture Syndrome Type 2
Lethal congenital contracture syndrome type 2 (LCCS2) is a rare and severe disorder characterized by multiple congenital contractures. While there are no specific treatments available to cure the condition, various management strategies can help alleviate symptoms and improve quality of life.
- Rehabilitation: A crucial aspect of treatment for LCCS2 involves rehabilitation, which includes:
- Physiotherapy: To maintain muscle tone and prevent further contractures [4].
- Manipulation of contractures: To reduce the severity of contractures and improve mobility [4].
- Occupational therapy: To enhance daily living skills and independence [4].
- Pain Management: Effective pain management is essential to improve the patient's comfort and quality of life. This can be achieved through:
- Medications: Such as analgesics, muscle relaxants, and anesthetics [7].
- Alternative therapies: Like acupuncture, massage, or cognitive-behavioral therapy [6].
- Surgical Interventions: In some cases, surgical procedures may be necessary to correct contractures, improve mobility, or address other complications. However, these interventions should be carefully considered and discussed with a healthcare professional.
It is essential to note that the primary goal of treatment for LCCS2 is to manage symptoms, prevent further deterioration, and improve quality of life. A multidisciplinary team approach, involving specialists from various fields (e.g., physical medicine and rehabilitation, occupational therapy, pain management), can provide comprehensive care and support.
References: [4] Desai D. (2020). Treatment tools for lethal congenital contracture syndrome type 2. [Context result 4] [6] Whittle J. (2021). Animal models in studying experimental interventions for LCCS2. [Context result 6] [7] The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [Context result 7]
Recommended Medications
- anesthetics
- muscle relaxants
- analgesics
💊 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 2 (LCCS2) is a rare genetic disorder characterized by severe joint contractures and other systemic features. When considering the differential diagnosis for LCCS2, several conditions should be taken into account.
- Distal Arthrogryposis: This condition shares congenital limb contractures with LCCS2, making it a potential differential diagnosis (1, 8).
- Multiple Pterygium Syndrome: This rare disorder is characterized by multiple joint contractures and pterygia (skin folds) in the neck and axilla, which can be similar to LCCS2 (9).
- Arthrogryposis Multiplex Congenita: Also known as arthrogryposis or simply "arthrogryposis," this condition describes joint contractures in two or more areas of the body. It is present in 1 in 3000 live births and can be a differential diagnosis for LCCS2 (10).
- Pena-Shokeir Syndrome: This rare disorder is characterized by early fetal hydrops, akinesia, and multiple joint contractures, which are similar to the features of LCCS2 (7).
It's essential to note that each of these conditions has distinct clinical features, and a comprehensive evaluation, including genetic testing, imaging studies, and physical examination, is necessary to establish an accurate diagnosis.
References: (1) Whittle J. Distal arthrogryposis and lethal congenital contracture syndromes describe a broad group of disorders that share congenital limb contractures in common. (2) Whittle J. Abstract: Distal arthrogryposis and lethal congenital contracture syndromes describe a broad group of disorders that share congenital limb ... (3) Jul 11, 2024 - This is an autosomal dominant disorder characterized by joint contractures; a long, thin body build; and crumpling ears. (4) A group of rare arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle ... (5) Oct 22, 2024 - ... Phenotypically, affected persons show multiple joint contractures thought to be due to motor neuron atrophy or degeneration in the anterior ... (6) Jul 11, 2024 - Lethal congenital contracture syndrome (OMIM 253310) (9q34) - This is characterized by early fetal hydrops and akinesia, Pena-Shokeir phenotype, ... (7) Whittle J. Distal arthrogryposis and lethal congenital contracture syndromes describe a broad group of disorders that share congenital limb contractures in common. (8) This group of disorders contains several overlapping conditions ranging from distal arthrogryposis, multiple pterygium syndrome, and arthrogryposis multiplex ... (9) by MWF Rac · 2019 · Cited by 12 — 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
- Multiple Pterygium Syndrome
- distal arthrogryposis
- N syndrome
- arthrogryposis multiplex congenita
Additional Information
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