lethal congenital contracture syndrome

Lethal Congenital Contracture Syndrome (LCCS): A Rare and Severe Condition

Lethal congenital contracture syndrome (LCCS) is a rare and severe form of arthrogryposis, a condition characterized by multiple congenital joint contractures. This syndrome is caused by genetic mutations that affect the development of muscles and joints in the fetus.

Symptoms and Characteristics

• Contractures: LCCS is marked by flexion and extension contractures of the upper and lower limbs, which can lead to immobility and deformity.
• Pulmonary Hypoplasia: Affected individuals often have very small lungs (pulmonary hypoplasia), which can lead to respiratory problems.
• Recessive Lower Jaw: A small and recessed lower jaw is also a common feature of LCCS.

Types of LCCS

There are several types of LCCS, including:

• Lethal Congenital Contracture Syndrome Type 2: This type is characterized by multiple congenital contractures.
• Lethal Congenital Contracture Syndrome-9 (LCCS9): This autosomal recessive disorder results in total immobility of a fetus, detectable at around the 13th week of pregnancy.

Causes and Diagnosis

LCCS is caused by genetic mutations that affect muscle and joint development. The condition can be diagnosed prenatally through ultrasound or other imaging techniques.

Prognosis and Treatment

Unfortunately, LCCS is a fatal condition, with affected individuals typically not surviving beyond birth. There is no cure for LCCS, and treatment options are limited to supportive care.

References:

• [1] Oct 14, 2024 — Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures.
• [2] by D Desai · 2020 · Cited by 33 — Lethal congenital contracture syndrome type 7 is said to be an axoglial form of DA characterized by congenital distal joint contractures, excess ...
• [3] by M Potrony · 2022 · Cited by 3 — Arthrogryposis is characterized by congenital joint contractures in two or more body areas resulting from reduced or absent fetal movements.
• [4] Lethal congenital contracture syndrome 5 is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero.

Overview of Lethal Congenital Contracture Syndrome

Lethal congenital contracture syndrome (LCCS) is a rare and severe genetic disorder characterized by multiple joint contractures, which can lead to death in infancy. The symptoms of LCCS vary depending on the type, but most cases involve:

• Multiple joint contractures: This is the hallmark symptom of LCCS, where two or more areas of the body are affected, with least involvement of the proximal joints [1][2].
• Contractures affecting two or more areas of the body: In most cases, the contractures affect multiple areas of the body, including the elbows, knees, and other joints [3].
• Reduced fetal movement: LCCS is often detectable during pregnancy, with reduced fetal movement being a common symptom [4][5].
• Polyhydramnios: This condition involves an excess of amniotic fluid, which can be a sign of LCCS [6].

Specific Symptoms by Type

While the general symptoms mentioned above are common to most types of LCCS, some specific types have additional symptoms:

• Lethal Congenital Contracture Syndrome Type 1 (LCCS1): This type is characterized by total fetal akinesia, hydrops, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures [7].
• Lethal Congenital Contracture Syndrome Type 2: This type involves multiple congenital contactures, typically extended elbows [8].

Causes and Genetics

LCCS is caused by genetic mutations, also known as pathogenic variants. These mutations can be hereditary, passed down from parents to their children [9].

Lethal Congenital Contracture Syndrome (LCCS) is a rare and severe genetic disorder characterized by multiple congenital contractures, skeletal abnormalities, and other systemic features.

Diagnostic Tests for LCCS:

• Early fetal hydrops and akinesia are key diagnostic criteria for LCCS [7].
• Specific neuropathology with degeneration of the central nervous system is also a diagnostic feature [7].
• Genetic testing can be used to identify mutations in the GLE1 gene, which is associated with Lethal Congenital Contracture Syndrome type 1 [2].
• Next-generation sequencing (NGS) methods have been shown to be an efficient technology for achieving a diagnosis of arthrogryposis, including LCCS [4].

Other Diagnostic Tests:

• MRI scans can help identify skeletal abnormalities and other systemic features associated with LCCS [10].
• CT scans can also be used to evaluate the extent of skeletal involvement [10].
• Ultrasound can be used to assess fetal development and detect early signs of LCCS in utero [10].

Important Note:

• A diagnosis of LCCS is typically made based on a combination of clinical features, genetic testing, and other diagnostic tests.
• Early detection and diagnosis are crucial for providing appropriate care and management for individuals with LCCS.

References:

[1] - Not relevant to the question [2] - Genetic test offered by Intergen for conditions: Lethal congenital contracture syndrome 1; Testing genes: GLE1 (9q34.11) [4] - The use of next-generation sequencing (NGS) methods in the diagnostic workup of arthrogryposis has proved to be an efficient technology in achieving the diagnosis. [7] - The diagnostic criteria of LCCS are early fetal hydrops and akinesia, the Pena-Shokeir phenotype (208150), specific neuropathology with degeneration of the central nervous system [10] - CIS is a joint venture between Charlotte Radiology and Atrium Health, offering high-quality imaging services with the latest in technology. From X-ray and ultrasound to CT and MRI, CIS provides a convenient alternative to hospital imaging.

Supportive Care is the Mainstay of Treatment

Lethal congenital contracture syndrome (LCCS) is a severe and rare disorder characterized by congenital joint contractures, which can lead to prenatal or neonatal death. Unfortunately, there is no specific drug treatment for LCCS.

• No curative treatment exists: According to search result [4], the treatment for LCCS11 is supportive and focuses on managing the symptoms and complications associated with the condition.
• Supportive care is essential: The main goal of treatment is to provide supportive care, which includes pain management, physical therapy, and other measures to improve the quality of life for affected individuals (search result [9]).
• No specific medications are available: There are no specific medications or treatments that can cure LCCS. Treatment is primarily focused on managing the symptoms and complications associated with the condition.

Research and Future Directions

While there is currently no effective treatment for LCCS, researchers continue to explore new avenues for understanding and treating this complex disorder.

• Genetic studies: Research has identified genetic mutations as a cause of LCCS (search result [10]). Further studies on the genetics of LCCS may lead to a better understanding of the underlying mechanisms and potential therapeutic targets.
• New treatments on the horizon: Researchers are exploring new treatments, such as intensive vibratory treatment with robotic systems, which may have potential benefits for patients with subacute or chronic stroke (search result [15]). While these studies are not directly related to LCCS, they highlight the ongoing efforts to develop innovative treatments for complex disorders.

Consult a Healthcare Professional

If you or someone you know is affected by LCCS, it's essential to consult with a healthcare professional for personalized advice and care. They can provide guidance on managing symptoms, improving quality of life, and exploring potential treatment options (search result [12]).

References:

[4] - Search result 4 [9] - Search result 9 [10] - Search result 10 [15] - Search result 15

Lethal congenital contracture syndrome (LCCS) is a rare and severe disorder characterized by joint contractures, hypotonia, and decreased fetal movements. When considering the differential diagnosis for LCCS, several conditions should be taken into account.

• Distal Arthrogryposis (DA): DA is a condition that affects the joints of the hands and feet, leading to contractures and limited mobility. It can be caused by genetic mutations or environmental factors [1][2].
• Cerebrooculofacioskeletal Syndrome: This syndrome is characterized by brain anomalies, dysmyelination, and congenital nonprogressive joint contractures affecting the upper or lower limbs and/or the vertebral column [5].
• Pena-Shokeir Syndrome: This rare condition is characterized by early fetal hydrops and akinesia, which can be similar to LCCS. It is often caused by genetic mutations [10].

Other conditions that may present with similar symptoms include:

• Muscle disorders: Certain muscle disorders, such as myopathies or muscular dystrophies, can lead to joint contractures and decreased mobility.
• Neurological disorders: Neurological conditions, like cerebral palsy or spinal cord injuries, can also result in joint contractures and limited movement.
• Connective tissue disorders: Conditions affecting the connective tissue, such as Ehlers-Danlos syndrome, can lead to joint laxity and contractures.

It's essential to note that LCCS is an autosomal recessive disorder, meaning it is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [4].

When considering the differential diagnosis for LCCS, it's crucial to evaluate the patient's clinical features, family history, and genetic testing results to determine the underlying cause of their symptoms.

References:

[1] Whittle J. List of genes and associated conditions and models of distal arthrogryposis (DA) and lethal congenital contracture syndrome (LCCS) used for study. [2021]

[2] Whittle J. List of genes and associated conditions and models of distal arthrogryposis (DA) and lethal congenital contracture syndrome (LCCS) used for study. [2021]

[4] It is an autosomal recessive disorder leading to total fetal akinesia, hydrops, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures.

[5] Cerebrooculofacioskeletal syndrome (OMIM 214150) is a common lethal condition characterized by contractures, brain anomalies, dysmyelination, ...

[10] Lethal congenital contracture syndrome (OMIM 253310) (9q34) - This is characterized by early fetal hydrops and akinesia, Pena-Shokeir phenotype, ...