Meckel syndrome 4

Meckel syndrome, type 4 is an autosomal recessive disorder characterized by renal cysts, central nervous system anomalies (such as encephalocele), hepatic fibrosis, and polydactyly. This rare genetic condition affects multiple organ systems in the body.

Key Features:

• Renal cysts: Enlarged kidneys with numerous fluid-filled cysts
• Central Nervous System Anomalies: Occipital encephalocele (a sac-like protrusion of the brain)
• Hepatic Fibrosis: Scarring of the liver tissue
• Polydactyly: Extra fingers or toes

Meckel syndrome, type 4 is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of cilia. Cilia are tiny hair-like structures on the surface of cells that play a crucial role in various cellular processes.

References:

• [6] Meckel syndrome, type 4 is an autosomal recessive disorder characterized by renal cysts, central nervous system anomalies (such as encephalocele), hepatic fibrosis, and polydactyly.
• [9] Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of cilia.

Finger and Toe Problems in Meckel Syndrome

Meckel syndrome can cause problems with the development of fingers and toes, particularly on the outer edge of the small outer finger (pinky). Some common signs and symptoms include:

• Extra fingers or toes: A baby may be born with extra fingers or toes, often present on the outer edge of the small outer finger (pinky).
• Polydactyly: This is a condition where there are extra digits on the hands or feet.
• Enlarged kidneys with numerous fluid-filled cysts: Large polycystic kidneys with cystic dysplasia are a constant feature of Meckel syndrome.

These symptoms can vary in severity and may be accompanied by other signs and symptoms, such as cleft palate, cleft upper lip, and heart problems. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.

[4][5][6]

Meckel syndrome, also known as Meckel-Gruber syndrome, is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body. Diagnostic tests for Meckel syndrome are crucial in establishing an early diagnosis and providing appropriate management.

Diagnostic Tests:

• Ultrasound examination: The most common diagnostic test for Meckel syndrome is ultrasound examination, which can be performed as early as 11-14 weeks of gestation (4). This test can detect the three major manifestations of the syndrome, including enlarged kidneys with numerous cysts, polydactyly, and a large posterior fossa cyst.
• Targeted variant analysis: Molecular genetics tests, such as targeted variant analysis, can be used to identify specific genetic mutations associated with Meckel syndrome (1).
• Deletion/duplication analysis: This test can help identify deletions or duplications of genetic material that may contribute to the development of Meckel syndrome (71).
• Sequence analysis of select exons: Sequence analysis of specific exons can be used to detect mutations in genes associated with Meckel syndrome (1).

Early Diagnosis:

The diagnosis of Meckel syndrome can be established by ultrasound examination as early as 11-14 weeks of gestation, when the three major manifestations can be seen (4). This early detection allows for timely management and planning for the baby's birth.

References:

• [4] Nov 13, 2023 — The diagnosis can be established by ultrasound examination as early as 11-14 weeks of gestation, when the three major manifestations can be seen ...
• [1] Sequence analysis of select exons (1) · Sequence analysis of the ...
• [71] Deletion/duplication analysis (71)
• [15] Targeted variant analysis (15)

Treatment Options for Meckel Syndrome

Meckel syndrome, also known as Meckel-Gruber syndrome, is a rare and severe genetic disorder that affects multiple systems in the body. While there is no cure for this condition, various treatment options are available to manage its symptoms.

• Prenatal Treatment: In some cases, prenatal treatment may be considered to alleviate symptoms or prevent complications. However, this approach is typically reserved for specific situations and should be discussed with a healthcare provider.
• Surgical Intervention: Surgical procedures may be necessary to address certain complications associated with Meckel syndrome, such as occipital encephalocele (a sac-like protrusion of the brain through an opening at the back of the skull) or polydactyly (extra fingers and toes).
• Antibiotic Therapy: In some cases, antibiotic treatment may be prescribed to prevent or treat infections that can arise due to compromised kidney function or other related complications.
• Palliative Care: Unfortunately, Meckel syndrome is often a fatal condition. In such cases, palliative care focuses on providing comfort and alleviating symptoms to improve the quality of life for affected individuals.

References

• [4] No specific treatment information was provided in this search result.
• [5] Urgent antibiotic administration was mentioned as part of the management plan for an infant with Meckel syndrome. However, this is not a standard treatment approach and should be discussed with a healthcare provider.
• [12] The treatment for Meckel syndrome depends on the individual's symptoms and may involve a combination of surgical intervention, antibiotic therapy, and palliative care.

Please note that these treatment options are based on the information provided in the search results and may not reflect the most up-to-date or comprehensive information available. It is essential to consult with a healthcare professional for personalized advice and guidance.

Differential Diagnoses of Meckel Syndrome

Meckel syndrome, also known as Meckel-Gruber syndrome, is a rare genetic disorder characterized by the triad of occipital encephalocele, large polycystic kidneys, and postaxial polydactyly. However, differential diagnosis is essential to rule out other similar conditions.

Similar Conditions:

• Smith-Lemli-Opitz Syndrome (SLOS): This genetic disorder also presents with similar symptoms such as developmental delays, intellectual disability, and characteristic facial features [1][7].
• Autosomal Recessive Polycystic Kidney Disease (ARPKD): This condition is characterized by the presence of large polycystic kidneys, which can be similar to Meckel syndrome [2][7].
• Trisomy 13: Also known as Patau syndrome, this genetic disorder presents with severe intellectual disability and characteristic physical features that may resemble Meckel syndrome [3].
• Hydrolethalus Syndrome (HLS): This rare genetic disorder is characterized by the presence of hydrocephalus, polydactyly, and other developmental abnormalities that can be similar to Meckel syndrome [2][7].

Other Conditions:

• Senior-Loken Syndrome: A rare genetic disorder characterized by the presence of congenital nephrotic syndrome and retinal degeneration [5].
• Colitis: Inflammation of the colon, which may present with symptoms similar to Meckel syndrome [5].
• Gastrointestinal Duplications: A rare condition where there is a duplication of the gastrointestinal tract, which can cause symptoms similar to Meckel syndrome [5].

Key Features:

• Occipital encephalocele
• Large polycystic kidneys
• Postaxial polydactyly

It's essential to note that differential diagnosis for Meckel syndrome is complex and requires a comprehensive evaluation of the patient's symptoms, medical history, and genetic testing.

References:

[1] CP Chen (2007) - Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, JBTS, BBS, and others.

[2] AEM Kheir (2012) - The triad of occipital encephalocele, large polycystic kidneys, and postaxial polydactyly characterizes Meckel-Gruber syndrome. Cystic dysplasia of the kidneys is a common feature.

[3] Abnormality of head or neck. Cleft palate; Abnormality of limbs. Postaxial hand polydactyly; Abnormality of the cardiovascular system. Atrial septal defect

[4] Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.

[5] Colitis. Colonic Vascular Malformations. Emergent Treatment of Gastroenteritis · Gastrointestinal Duplications.

[6] by CP Chen · 2007 · Cited by 104 — Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, JBTS, BBS, and others.

[7] by CP Chen · Cited by 104 — Differential diagnosis for MKS includes autosomal recessive PKD, trisomy 13, Smith-Lemli-Opitz syndrome (SLOS), hydrolethalus syndrome, SLSN, JBTS, BBS, and others.