Lethal Multiple Pterygium Syndrome
Disease Details
Family Health Simplified
- Description
- Lethal multiple pterygium syndrome (LMPS) is a rare genetic disorder characterized by the presence of web-like skin folds (pterygia) across joints, restricted fetal movement, and other severe congenital anomalies, often leading to early death.
- Type
- Lethal multiple pterygium syndrome is typically inherited in an autosomal recessive manner.
- Signs And Symptoms
-
Lethal multiple pterygium syndrome (LMPS) is a rare genetic disorder. Key signs and symptoms include:
1. **Pterygia:** Web-like skin folds may develop across joints, causing restricted movement.
2. **Congenital Contractures:** Joint deformities present at birth.
3. **Facial Abnormalities:** These may include a small jaw (micrognathia), cleft palate, or a flat nose.
4. **Spinal anomalies:** Issues such as scoliosis may be present.
5. **Hydrops Fetalis:** Severe prenatal edema (swelling).
6. **Respiratory Issues:** Due to malformed respiratory structures.
7. **Genitourinary Malformations:** Abnormalities in the development of the genitals and urinary system.
8. **Cardiac Defects:** Structural heart problems may be present.
Fatal outcomes are common, often due to respiratory complications or multiple organ malformations. - Prognosis
- Lethal multiple pterygium syndrome (LMPS) is a rare genetic disorder. The prognosis is generally poor, often resulting in stillbirth or death shortly after birth due to severe malformations and complications involved with the condition.
- Onset
- Lethal Multiple Pterygium Syndrome (LMPS) is typically present at birth, as it is a congenital disorder. As for the term "nan," which might indicate "not a number" or be a placeholder, additional specific context is needed to address it accurately in connection with this syndrome. Generally, LMPS manifests prenatally or immediately after birth with characteristic multiple joint contractures, webbing of the skin (pterygia), and often severe complications that can be life-threatening.
- Prevalence
- Lethal Multiple Pterygium Syndrome (LMPS) is an exceedingly rare genetic disorder. Exact prevalence numbers are not well-documented due to its rarity, but it is considered to be very uncommon. Available data suggests that the incidence is low, with only a limited number of cases reported in medical literature.
- Epidemiology
- Lethal multiple pterygium syndrome is a very rare genetic disorder. The exact epidemiological data is limited due to its rarity. It is inherited in an autosomal recessive manner. Without specific prevalence or incidence figures available, the condition is understood primarily through the documentation of individual case reports and small case series in the medical literature.
- Intractability
- Lethal multiple pterygium syndrome (LMPS) is typically considered intractable. It is a severe genetic disorder characterized by multiple congenital abnormalities, including joint contractures, webbing of the skin (pterygia), and in many cases, severe organ malformations. The prognosis is usually poor, with many affected individuals dying in infancy or being stillborn. There is currently no cure for LMPS, and treatment focuses on managing symptoms and supportive care.
- Disease Severity
- Lethal Multiple Pterygium Syndrome is an extremely severe congenital condition characterized by multiple pterygia (webbing of the skin), joint contractures, and other abnormalities. It is often fatal, with many affected infants being stillborn or dying shortly after birth due to complications.
- Pathophysiology
- Lethal Multiple Pterygium Syndrome (LMPS), also known as multiple pterygium syndrome, lethal type, is a rare genetic disorder. It is characterized by the presence of web-like skin folds (pterygia) in multiple body areas, such as the neck, knees, and elbows. The pathophysiology primarily involves mutations in the CHRNG gene, which encodes the gamma subunit of the acetylcholine receptor found at the neuromuscular junction. Defective receptors lead to impaired neuromuscular transmission, causing fetal akinesia (reduced or absent fetal movements). This immobility results in the development of joint contractures, webbing, and other associated malformations. The condition is typically inherited in an autosomal recessive pattern and is often fatal before or shortly after birth.
- Carrier Status
- Lethal Multiple Pterygium Syndrome (LMPS) is a rare genetic disorder often caused by mutations in the CHRNG gene. Carrier status refers to an individual carrying one mutated copy of a gene associated with an autosomal recessive disorder. Carriers do not typically show symptoms but can pass the mutated gene to their offspring. If both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected by LMPS.
- Mechanism
-
Lethal multiple pterygium syndrome (LMPS) is a rare genetic disorder characterized by multiple joint contractures (pterygia), short stature, and severe respiratory complications, often leading to early death. The disease mechanism involves defects in the normal development and function of connective tissues and muscles.
**Molecular Mechanisms:**
The underlying cause of LMPS is typically mutations in the **CHRNG gene**, which encodes the gamma subunit of the acetylcholine receptor (AChR) found in fetal muscle tissue. This receptor plays a critical role in neuromuscular signaling. Mutations in **CHRNG** lead to dysfunctional AChR, resulting in impaired neuromuscular transmission, reduced fetal movement (fetal akinesia), and consequently abnormal joint and muscle development leading to pterygia. Other genes like **CHRND** and **CHRNB1**, also encoding subunits of the AChR, have occasionally been implicated. The exact mutations and their impact on receptor function vary, but they generally result in disrupted signaling at the neuromuscular junction. - Treatment
- For Lethal Multiple Pterygium Syndrome, there is currently no known cure or standardized treatment. Management primarily focuses on supportive care and addressing specific symptoms or complications as they arise. This may include surgical interventions for pterygium or other structural abnormalities, respiratory support, and physical therapy. Genetic counseling is often recommended for affected families.
- Compassionate Use Treatment
-
Lethal Multiple Pterygium Syndrome (LMPS) is a rare genetic disorder often resulting in severe complications that lead to early mortality. The compassionate use treatments, off-label, or experimental treatments for LMPS primarily focus on managing symptoms and improving quality of life rather than curing the disease. Options may include:
1. **Surgical Interventions**: To address severe joint contractures or other structural anomalies that may impair function or cause discomfort.
2. **Supportive Care**: Including respiratory support for congenital diaphragmatic hernia or other respiratory complications, physical therapy for mobility issues, and nutritional support.
3. **Genetic Counseling**: For affected families, to provide information on the genetic nature of the disorder and discuss future family planning options.
4. **Experimental Therapies**: Gene therapy and other molecular-based treatments are areas of ongoing research but are not yet established as standard treatments.
The rarity and variability of LMPS mean that treatment plans are highly individualized and based on the specific manifestations and complications in each patient. Enrolling in clinical trials, when available, may provide access to emerging therapies. - Lifestyle Recommendations
-
Lethal multiple pterygium syndrome (LMPS) is a rare genetic disorder characterized by multiple joint contractures, skin webbing, and other abnormalities. It is generally not compatible with long-term survival, and therefore, lifestyle recommendations are limited. Supportive care focuses on managing symptoms and improving quality of life for those affected.
1. **Medical Monitoring:**
Regular appointments with a multidisciplinary medical team, including pediatricians, orthopedists, and geneticists, are essential.
2. **Respiratory Support:**
Breathing difficulties are common, so respiratory support such as ventilation may be necessary.
3. **Nutritional Support:**
Proper nutrition needs to be ensured, sometimes requiring feeding tubes if swallowing issues are present.
4. **Physical Therapy:**
Physical therapy can help manage joint contractures and improve mobility.
5. **Surgical Interventions:**
In some cases, surgical procedures may be required to correct or mitigate deformities.
6. **Parental/Caregiver Training:**
Educating caregivers on how to manage daily care and recognize complications early is crucial.
Given the severe nature of LMPS, these recommendations aim to provide the best possible quality of life within the constraints of the condition. - Medication
- Lethal multiple pterygium syndrome is a very rare genetic disorder characterized by multiple joint contractures, webbing of the skin (pterygia), and other anomalies. There is no specific medication to cure this condition. Treatment is generally supportive and may include physical therapy to manage joint contractures, surgery to release pterygia, and interventions to address other associated anomalies. Multidisciplinary care involving geneticists, orthopedic surgeons, and other specialists is often necessary.
- Repurposable Drugs
- For lethal multiple pterygium syndrome (LMPS), there is currently no established treatment or repurposable drugs specifically identified for the condition. LMPS is a rare genetic disorder typically caused by mutations in the CHRNG gene. Management primarily focuses on symptomatic relief and supportive care. Research into repurposable drugs for LMPS is ongoing, but specific drugs have not yet been validated for this syndrome.
- Metabolites
- For Lethal Multiple Pterygium Syndrome (LMPS), specific metabolites that could directly indicate or diagnose the condition are not well-documented. LMPS is primarily identified and diagnosed through clinical features and genetic testing rather than by measuring particular metabolites. The syndrome is characterized by multiple congenital contractures (arthrogryposis), webbing of the skin (pterygia), and other congenital malformations. Genetic mutations, especially in the CHRNG gene, are often implicated.
- Nutraceuticals
- Lethal Multiple Pterygium Syndrome (LMPS) is a rare genetic disorder characterized by multiple congenital joint contractures (arthrogryposis), pterygia (webbing of the skin), and other anomalies. It is typically fatal early in life. There is no specific treatment involving nutraceuticals for LMPS. Management focuses on supportive care and addressing the individual symptoms.
- Peptides
- Lethal Multiple Pterygium Syndrome (LMPS) is a rare genetic disorder characterized by multiple web-like skin folds (pterygia) and other congenital anomalies. However, there is no widely recognized treatment involving peptides or nanotechnology for LMPS. Current management focuses on supportive care and addressing individual symptoms. Research is ongoing to explore potential therapeutic avenues.