GeneHealth - Your precision medicine

Meckel Syndrome Type 4

Disease Details

Family Health Simplified

Buy Membership

Description: Meckel syndrome type 4 is a rare genetic disorder characterized by developmental anomalies such as encephalocele, cystic kidneys, polydactyly, and liver fibrosis.
Type: Meckel syndrome type 4 is an autosomal recessive disorder. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder.
Signs And Symptoms: Meckel syndrome type 4 (MKS4) is a rare genetic disorder belonging to the group of disorders known as ciliopathies. The key signs and symptoms typically include:

1. **Renal Cystic Dysplasia**: The formation of multiple cysts in the kidneys, leading to abnormal kidney development and function.
2. **Occipital Encephalocele**: A neural tube defect where brain tissue protrudes through an abnormal opening in the skull.
3. **Polydactyly**: The presence of extra fingers and/or toes beyond the usual number.
4. **Liver Fibrosis**: The formation of excess fibrous connective tissue in the liver, which can lead to liver dysfunction.
5. **Pulmonary Hypoplasia**: Underdeveloped lungs, which can cause severe breathing difficulties.
6. **Facial Dysmorphism**: Abnormalities in the structure and appearance of the face, such as cleft lip or palate.

This syndrome is typically diagnosed in utero or shortly after birth due to its severe manifestations.
Prognosis: Meckel syndrome type 4 (MKS4) is a rare, autosomal recessive disorder characterized by multiple congenital anomalies. The prognosis is generally poor, with most affected fetuses either being stillborn or dying shortly after birth due to severe complications affecting multiple organ systems, such as the brain, kidneys, and liver.
Onset: Meckel syndrome type 4 typically has a prenatal onset. It is a severe genetic disorder that presents with various congenital malformations detected during pregnancy.
Prevalence: The prevalence of Meckel syndrome type 4 is not clearly defined due to its rarity. This genetic disorder falls under the broader category of Meckel-Gruber syndrome, which collectively has an estimated prevalence of 1 in 13,250 to 1 in 140,000 live births. Precise figures for type 4 specifically are not available.
Epidemiology: Meckel syndrome type 4 is a rare autosomal recessive disorder. Due to its rarity, comprehensive epidemiological data are limited, but it is part of the broader category of Meckel syndrome, which has a general incidence of approximately 1 in 13,250 to 1 in 200,000 live births. This variance in incidence is partly due to differences in population genetics and consanguinity rates.
Intractability: Meckel syndrome type 4, also known as Meckel-Gruber syndrome type 4, is an autosomal recessive disorder characterized by a combination of congenital anomalies, such as encephalocele, polycystic kidneys, and polydactyly. This condition is generally considered intractable due to its severe and often life-threatening manifestations, which typically result in perinatal or early neonatal death. There is currently no cure, and management focuses on supportive care and palliative measures.
Disease Severity: Meckel syndrome type 4 is generally considered a severe, often lethal condition. This disorder manifests with multiple congenital anomalies, including brain malformations, kidney cysts, liver fibrosis, and polydactyly. Most affected individuals do not survive past infancy.
Pathophysiology: Meckel syndrome type 4 is a rare genetic disorder characterized by multiple congenital anomalies including occipital encephalocele, cystic kidneys, and polydactyly. It follows an autosomal recessive inheritance pattern. The pathophysiology involves mutations in the MKS1 gene, which plays a critical role in the development and function of primary cilia. Defective cilia result in disrupted cellular signaling pathways crucial for tissue and organ development. There is no specific treatment, and management focuses on symptomatic relief and supportive care.
Carrier Status: Meckel syndrome type 4 is an autosomal recessive disorder. This means that carriers of the condition have one mutated copy of the gene and do not typically show symptoms. For a child to be affected by Meckel syndrome type 4, they must inherit two mutated copies of the gene, one from each parent. Carrier status can be determined through genetic testing.
Mechanism: Meckel syndrome type 4 (MKS4) is a rare, genetic disorder that is part of a group of related conditions known as ciliopathies, which are caused by defects in the structure or function of cilia. Below are the details regarding its mechanism and molecular mechanisms:

**Mechanism:**
Meckel syndrome type 4 typically features a combination of renal cystic dysplasia, polydactyly, liver fibrosis, and encephalocele. These symptoms reflect the key role of cilia in various cellular and developmental processes.

**Molecular Mechanisms:**
1. **Genetic Mutations:** MKS4 is caused by mutations in the CC2D2A gene located on chromosome 4p15.32. This gene encodes a protein believed to play a crucial role in cilia formation and function.

2. **Ciliogenesis and Ciliary Function:** The CC2D2A protein is involved in ciliogenesis, the process by which cilia are formed. Dysfunctional or absent CC2D2A protein leads to defective cilia, impairing their signaling and structural roles.

3. **Signal Transduction:** Cilia are essential for various signaling pathways, including those involved in cell differentiation, migration, and tissue homeostasis. CC2D2A mutations may disrupt these pathways, causing abnormal tissue development.

4. **Organ Development:** The defective ciliary function impacts the development of multiple organs, leading to the characteristic malformations of Meckel syndrome, such as kidney cysts and brain malformations (encephalocele).

In summary, Meckel syndrome type 4 arises from mutations in the CC2D2A gene, leading to cilia-related defects that disrupt organ development and function.
Treatment: There is no specific treatment for Meckel syndrome type 4, which is a rare genetic disorder. Management typically focuses on supportive care and addressing individual symptoms. This may involve a multidisciplinary approach including pediatricians, nephrologists, neurologists, and other specialists to manage renal, hepatic, and neurological complications. Genetic counseling is also recommended for affected families.
Compassionate Use Treatment: Meckel Syndrome Type 4 (MKS4) is a rare, genetic disorder characterized by a combination of renal cystic dysplasia, central nervous system malformations, and liver fibrosis, among other anomalies. Due to its rarity and severity, treatment options are limited mainly to supportive care and symptomatic management.

### Compassionate Use Treatment
There is no established compassionate use treatment specifically for MKS4, but compassionate use programs might allow access to experimental therapies under special circumstances. This would require case-by-case evaluation by healthcare providers and regulatory bodies.

### Off-Label or Experimental Treatments
Currently, there are no specific off-label treatments approved for MKS4. Experimental treatments involving gene therapy or stem cell therapy might be areas of ongoing research, but none have yet reached clinical application for this condition.

### Supportive Care
Management focuses on symptomatic relief and may include:
- Neonatal intensive care for respiratory support.
- Dialysis or kidney transplantation for renal failure.
- Surgical interventions for structural anomalies.

Patients should be managed by a multidisciplinary team including nephrologists, neurologists, and genetic counselors to address the complex needs associated with MKS4. Research into targeted therapies is ongoing, but as of now, treatment remains largely supportive.
Lifestyle Recommendations: Meckel syndrome type 4 is a severe genetic disorder that typically presents with multiple congenital anomalies, including kidney cysts, brain malformations, and polydactyly. Due to its serious and often life-threatening nature, the management focuses primarily on supportive care rather than lifestyle modifications. Here are general recommendations considering its severity:

1. **Medical Supervision:** Regular follow-up with a team of specialists, including nephrologists, neurologists, and pediatricians, is essential.
2. **Nutrition:** Depending on symptoms and complications, a specialized diet may be necessary. Consult a dietitian experienced in managing children with complex medical needs.
3. **Hydration:** Ensure adequate fluid intake, especially if kidney function is impaired.
4. **Infection Prevention:** Due to possible weakened immune systems or related complications, it's crucial to follow guidelines for infection prevention, including vaccinations, good hygiene, and avoiding exposure to infections.
5. **Physical Therapy:** Engage in physical therapy, if recommended, to address motor development issues that may be present.
6. **Family Support:** Emotional and psychological support for the family is vital. Connecting with support groups and counseling services can provide coping strategies and emotional relief.

Due to the complexity and severity of the condition, individualized care plans created in cooperation with healthcare providers are critical.
Medication: Meckel Syndrome Type 4 is a rare genetic disorder, and there is currently no specific medication to treat the condition itself. Management primarily focuses on supportive care and addressing the symptoms and complications associated with the syndrome. This may include surgery to address physical abnormalities, and other interventions to manage issues such as respiratory distress, renal problems, or other organ-related complications. Genetic counseling may also be recommended for affected families.
Repurposable Drugs: Meckel syndrome type 4 is a rare genetic disorder; currently, there is limited data on repurposable drugs for treating this condition. Research efforts are ongoing, and therapy is primarily supportive.
Metabolites: Meckel Syndrome Type 4 does not have specific metabolites uniquely associated with it. Meckel Syndrome is a rare genetic disorder that often affects multiple organ systems, with common features including renal cystic dysplasia, central nervous system malformations, and liver fibrosis. Gene mutations in genes such as BCCP1, CC2D2A, and others related to ciliary function may be involved. Metabolic profiling for the specific disease is not well-defined in current literature. Accurate metabolic pathways or specific metabolites are not commonly referenced for this condition.
Nutraceuticals: Meckel syndrome type 4 is a genetic disorder characterized by multiple congenital anomalies. While specific nutraceuticals are not typically recommended for this condition, general supportive care and symptom management are important. Treatments focus primarily on addressing and managing the symptoms and may require a multidisciplinary approach. It is essential to consult a healthcare provider for personalized medical advice and appropriate management strategies.
Peptides: Meckel syndrome type 4 is a rare genetic disorder characterized by multiple congenital anomalies, including cystic kidneys, liver fibrosis, and central nervous system malformations. It is typically inherited in an autosomal recessive manner. The specific peptides involved in Meckel syndrome type 4 have not been definitively identified. Advanced diagnostic methods and further research are necessary to determine the precise molecular pathways and potential peptide involvement in this condition.