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Meckel Syndrome Type 3

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Description: Meckel syndrome type 3 is a genetic disorder characterized by kidney cysts, liver fibrosis, occipital encephalocele, and polydactyly.
Type: Meckel syndrome type 3 is inherited in an autosomal recessive manner.
Signs And Symptoms: Meckel syndrome type 3 is a rare genetic disorder that falls under the broader category of Meckel syndrome. It is characterized by several severe developmental anomalies. The main signs and symptoms include:

1. **Renal (Kidney) Abnormalities**: These can include cystic dysplasia, where the kidneys develop multiple cysts leading to impaired kidney function.

2. **Central Nervous System Anomalies**: This often involves encephalocele, a condition where brain tissue protrudes out to the skull, as well as other brain malformations.

3. **Liver Fibrosis**: Progressive scarring of the liver tissue can occur, which may affect liver function over time.

4. **Skeletal Abnormalities**: Polydactyly (extra fingers or toes) is common, as well as other skeletal malformations.

5. **Pulmonary Hypoplasia**: Underdevelopment of the lungs, which can lead to severe respiratory issues.

6. **Facial Dysmorphisms**: These might include a cleft lip and palate, and other structural anomalies of the face and head.

7. **Neonatal Lethality**: Unfortunately, the combination of these severe malformations often results in early death, usually within days to weeks after birth.

The severity and combination of symptoms can vary, but the condition is generally associated with significant life-threatening complications.
Prognosis: Meckel Syndrome Type 3 is a rare, inherited disorder that typically results in a poor prognosis. The syndrome is characterized by multiple congenital anomalies, including encephalocele, polycystic kidneys, and polydactyly, among others. Most affected individuals do not survive past infancy due to complications arising from these anomalies.
Onset: Meckel syndrome type 3 typically presents with symptoms at birth or during the prenatal period. It is a congenital disorder, which means it is present from birth.
Prevalence: The prevalence of Meckel syndrome, including type 3, is estimated to be around 1 in 13,250 to 1 in 140,000 live births. This autosomal recessive disorder is rare and characterized by multiple congenital anomalies.
Epidemiology: Meckel syndrome type 3 (MKS3) is a rare genetic disorder characterized by a combination of renal cysts, occipital encephalocele, and polydactyly. The exact incidence is not well-documented but is estimated to affect between 1 in 13,250 to 1 in 140,000 live births globally. The condition is inherited in an autosomal recessive pattern.
Intractability: Meckel syndrome type 3 is considered intractable due to its severe and often lethal developmental abnormalities. These abnormalities typically present before or shortly after birth, and there is currently no cure or effective long-term treatment for the condition. Management primarily focuses on symptomatic relief and supportive care.
Disease Severity: Meckel syndrome type 3 is a severe, often lethal genetic disorder characterized by developmental abnormalities.
Pathophysiology: Meckel syndrome type 3, also known as Meckel-Gruber syndrome type 3, is a rare, lethal genetic disorder typically evident at birth. It is inherited in an autosomal recessive pattern and is characterized by a combination of renal cystic dysplasia, central nervous system malformations (such as encephalocele), fibrotic changes in the liver, and polydactyly.

**Pathophysiology:**
Meckel syndrome type 3 is often caused by mutations in the B9D1 gene, which is important for primary cilia function. Primary cilia are cellular organelles crucial for various developmental signaling pathways. The mutations impair the function of these cilia, leading to defective organ development and function.

- **Renal Cystic Dysplasia:** Malformed kidneys with multiple cysts, interfering with their ability to filter blood and produce urine.
- **Encephalocele:** Protrusion of brain tissue through a defect in the skull, leading to numerous neurological deficits.
- **Hepatic Fibrosis:** Abnormal fibrous tissue formation in the liver, potentially affecting liver function.
- **Polydactyly:** Presence of extra fingers or toes, indicating abnormal limb development.

The impairment of cilia affects multiple organ systems, leading to the various congenital anomalies seen in this syndrome. The condition is typically severe and often results in perinatal death.
Carrier Status: Carrier status for Meckel Syndrome Type 3 refers to having one mutated copy of the gene responsible for the condition, without exhibiting symptoms. Individuals who are carriers can pass the mutated gene to their offspring, with a 50% chance in each pregnancy. If both parents are carriers, there is a 25% chance with each pregnancy that the child will inherit both mutated genes and thus present with Meckel Syndrome Type 3.
Mechanism: Meckel syndrome type 3 (MKS3) is a rare, lethal, multi-systemic genetic disorder characterized by a combination of renal cystic dysplasia, central nervous system malformations (such as encephalocele), polydactyly, and hepatic developmental defects. The molecular mechanism underlying MKS3 primarily involves mutations in the gene TMEM67.

TMEM67 encodes a protein also known as meckelin, which is essential for the proper function of primary cilia. Primary cilia are small cellular organelles that play a critical role in signaling pathways during embryonic development and in various cellular processes. Mutations in TMEM67 disrupt the structure and function of primary cilia, leading to the wide array of developmental abnormalities observed in MKS3.

The disrupted ciliary function affects several signaling pathways, including the Wnt and Hedgehog pathways, which are crucial for tissue patterning, cell differentiation, and organogenesis. Therefore, abnormalities in these pathways due to defective ciliary signaling contribute to the phenotypic manifestations of Meckel syndrome type 3.
Treatment: Meckel syndrome type 3 is a rare genetic disorder characterized by a combination of multiple congenital anomalies. There is no cure for the syndrome, and treatment is primarily supportive and symptomatic. Management often involves a multidisciplinary team to address the various manifestations, which can include kidney abnormalities, liver fibrosis, pulmonary hypoplasia, and central nervous system malformations. Pregnancies affected by Meckel syndrome type 3 are often monitored closely with regular ultrasounds. In many cases, prenatal diagnosis may be possible through genetic testing or detailed imaging.
Compassionate Use Treatment: Meckel syndrome type 3 (also referred to as Meckel-Gruber syndrome) is a rare genetic disorder, typically fatal, that affects several organ systems. There is currently no cure or well-established treatment for this condition. However, compassionate use and off-label or experimental treatments may be considered in some cases. These include:

1. **Supportive Care**: This primarily ensures the best possible quality of life, addressing symptoms and complications as they arise, such as respiratory support, feeding assistance, and managing renal and liver dysfunction.

2. **Experimental Therapies**: Gene therapy and targeted molecular therapies are areas of ongoing research. These approaches aim to address the underlying genetic mutations responsible for the syndrome, but they are still in the experimental stage and not widely available.

3. **Prenatal Intervention**: Intrauterine treatments or interventions may occasionally be considered, although these are highly experimental and carry significant risks.

4. **Participation in Clinical Trials**: Families might consider enrolling in clinical trials if available, as these trials can provide access to experimental therapies and contribute to the advancement of medical knowledge about the condition.

Consultation with a geneticist, neonatologist, or a specialist in rare diseases is crucial to exploring and understanding available options, including potential eligibility for clinical trials or compassionate use programs.
Lifestyle Recommendations: Meckel syndrome type 3 is a rare genetic disorder characterized by multiple congenital anomalies. Given the severity and complexity of the condition, lifestyle recommendations are often focused on managing symptoms and maximizing quality of life. These may include:

1. **Medical Supervision**: Regular follow-ups with a multidisciplinary medical team, including specialists in pediatrics, neurology, nephrology, and other relevant fields.
2. **Nutrition**: Ensuring proper nutrition, possibly with the assistance of a dietitian, to support overall health and development.
3. **Physical Therapy**: Engaging in physical therapy to help improve motor skills and physical function.
4. **Supportive Therapies**: Occupational and speech therapy to assist with developmental delays and improve daily functioning.
5. **Parental Support**: Providing psychological and emotional support for families dealing with the stress of managing a complex, life-threatening condition.
6. **Adaptive Equipment**: Utilizing adaptive equipment as needed for mobility, communication, and daily activities.
7. **Infection Prevention**: Taking measures to prevent infections due to associated complications, which might include respiratory and kidney issues.

Given the variability and potential severity of the symptoms, management plans need to be highly individualized and closely coordinated with healthcare professionals.
Medication: Meckel syndrome type 3 is a rare genetic disorder characterized by a combination of renal cystic dysplasia, central nervous system malformations, hepatic ductal dysplasia, and polydactyly. Management typically focuses on symptomatic and supportive care rather than specific medications. There are no known medications to cure or specifically treat this condition. Treatment usually involves a multidisciplinary approach to address the various symptoms and complications as they arise.
Repurposable Drugs: Meckel syndrome type 3 is a rare genetic disorder characterized by multiple congenital anomalies, including renal cysts, central nervous system malformations, and polydactyly. There are no well-established repurposable drugs specifically targeting Meckel syndrome type 3. Management generally focuses on supportive care and addressing symptoms. Due to the complexity and severity, consultation with a medical professional for tailored advice is recommended.
Metabolites: Meckel syndrome type 3 is a rare genetic disorder characterized by multiple congenital anomalies, including occipital encephalocele, polycystic kidneys, hepatic ductal dysplasia, and postaxial polydactyly. However, specific information on abnormal metabolites directly associated with Meckel syndrome type 3 has not been well-documented in the scientific literature. Given its genetic basis and impact on multiple organ systems, abnormalities in various metabolic pathways could be involved, but detailed metabolomic profiling specific to this subtype is limited.
Nutraceuticals: There is no widely recognized or standardized nutraceutical treatment specifically for Meckel syndrome type 3. It is a rare genetic disorder characterized by developmental anomalies, and management typically focuses on symptomatic and supportive care.
Peptides: Meckel syndrome type 3 is a rare autosomal recessive disorder. However, specific details about peptides related to Meckel syndrome type 3 are limited in current scientific literature. If you need more information about the molecular biology or treatment aspects involving peptides, consulting recent medical research or a specialist in genetic disorders might be helpful.