Meckel syndrome 8

Meckel syndrome, type 8 is a severe autosomal recessive ciliopathy characterized by encephalocele, polydactyly, and renal and biliary ductal dysplasia [4]. Clinical features may also include enlarged kidneys with numerous fluid-filled cysts and an occipital encephalocele, which is a sac-like protrusion of the brain tissue through a defect in the skull [5].

The syndrome is caused by mutations in the TCTN2 gene, which plays a crucial role in ciliary function and development [6]. This genetic mutation leads to abnormalities in the formation of cilia, resulting in the characteristic features of Meckel syndrome, type 8.

Some common features associated with Meckel syndrome, type 8 include:

• Encephalocele: A sac-like protrusion of the brain tissue through a defect in the skull
• Polydactyly: Extra fingers or toes
• Renal and biliary ductal dysplasia: Abnormalities in the development of the kidneys and bile ducts
• Enlarged kidneys with numerous fluid-filled cysts

It's worth noting that Meckel syndrome, type 8 is a rare and severe condition, and the symptoms can vary from person to person. The exact cause and progression of the disease are still being researched and understood.

References: [4] - Context result 4 [5] - Context result 5 [6] - Context result 6

Meckel Syndrome Signs and Symptoms

Meckel syndrome, also known as Meckel-Gruber syndrome, is a rare genetic disorder that affects multiple systems in the body. The signs and symptoms of this condition can vary from person to person, but some common features include:

• Enlarged kidneys with numerous fluid-filled cysts: This is one of the most common features of Meckel syndrome, where the kidneys are significantly enlarged due to the presence of many small cysts.
• Occipital encephalocele: This is a condition where there is a sac-like protrusion of the brain tissue through an opening in the skull, typically at the back of the head.

Other possible signs and symptoms of Meckel syndrome may include:

• Developmental problems: Meckel syndrome can cause problems with development of various organs and systems, including the eyes, facial features, heart, bones, urinary system, and genitalia.
• Cleft palate or cleft upper lip: Some individuals with Meckel syndrome may have a cleft palate or cleft upper lip.
• Polydactyly: This is a condition where there are extra fingers or toes, often present on the outer edge of the small outer finger (pinky).
• Bile duct proliferation: This refers to an abnormal growth of bile ducts in the liver.

It's essential to note that Meckel syndrome is a rare and complex condition, and not everyone with this disorder will exhibit all of these signs and symptoms. A proper diagnosis can only be made by a qualified medical professional through a combination of clinical evaluation, imaging studies, and genetic testing.

Meckel syndrome, also known as Meckel-Gruber syndrome, can be diagnosed through various diagnostic tests.

• Prenatal Ultrasound: The diagnosis of Meckel syndrome is typically made by prenatal ultrasound examination in the first or second trimester [7][9]. This test can detect anomalies such as enlarged kidneys with numerous cysts, occipital meningocele, and polydactyly.
• Molecular Genetics Tests: Definitive diagnosis is often possible by using DNA testing to screen for mutations in the known MKS genes [4]. Molecular diagnostic strategies include sequence analysis of select exons, targeted variant analysis, deletion/duplication analysis, and mutation scanning of select genes [3].
• Genetic Testing Panels: Diagnosis of ciliopathies (NGS screening panel, 90 genes) can also be used to diagnose Meckel syndrome [8].

These diagnostic tests can help identify the genetic mutations responsible for Meckel syndrome, allowing for a definitive diagnosis and informed treatment decisions.

Meckel syndrome-8 (MKS8) is a rare and severe genetic disorder caused by mutations in the TCTN2 gene on chromosome 12q24. Unfortunately, there is no cure for MKS8, and treatment options are limited to symptom management and palliative care.

According to search result [7], MKS8 is caused by homozygous mutation in the TCTN2 gene, which leads to severe developmental abnormalities and early mortality. The same source mentions that one family has been reported with this condition.

Search result [3] describes a case of Meckel syndrome (not specifically MKS8) where the baby was administered oxygen, intravenous fluids, and antibiotics, but unfortunately, the baby remained sick and distressed.

In general, treatment for Meckel syndrome, including MKS8, is focused on managing symptoms and providing comfort care. This may include:

• Oxygen therapy to support breathing
• Intravenous fluids to maintain hydration
• Antibiotics to manage infections
• Pain management to alleviate discomfort

However, these treatments are not curative, and the prognosis for individuals with Meckel syndrome, including MKS8, is generally poor.

It's worth noting that search result [5] mentions that Meckel-Gruber syndrome (a related condition) has a lethal outcome in most cases, with infants often being stillborn or dying within days or hours after birth. While this information may not be specific to MKS8, it highlights the severity of these genetic disorders.

In summary, while there is no cure for Meckel syndrome-8, treatment options are available to manage symptoms and provide comfort care. However, the prognosis for individuals with this condition is generally poor.

Meckel Syndrome Differential Diagnosis

Meckel syndrome, also known as Meckel-Gruber syndrome, is a rare genetic disorder characterized by multiple congenital anomalies. The differential diagnosis for Meckel syndrome includes several other malformation syndromes that share similar features.

Conditions to Consider:

• Autosomal recessive polycystic kidney disease (PKD)
• Trisomy 13
• Smith-Lemli-Opitz syndrome (SLOS)
• Hydrolethalus syndrome
• Spondyloepiphyseal dysplasia with joint laxity and congenital heart defects (SLSN)
• Joubert syndrome (JBTS)
• Bardet-Biedl syndrome (BBS)

These conditions can present with similar features to Meckel syndrome, such as renal cystic dysplasia, occipital encephalocele, polydactyly, and other congenital anomalies. A thorough diagnostic evaluation is necessary to distinguish between these conditions.

Key Features:

• Renal cystic dysplasia
• Occipital encephalocele
• Polydactyly
• Congenital heart defects
• Other congenital anomalies

A detailed clinical examination, imaging studies (e.g., ultrasound, MRI), and genetic testing may be necessary to establish a definitive diagnosis.

References:

• [8] Meckel-Gruber syndrome is generally diagnosed when renal cystic dysplasia and at least one other typical feature are present.
• [7] Differential diagnosis for Meckel syndrome includes autosomal recessive PKD, trisomy 13, Smith-Lemli-Opitz syndrome (SLOS), hydrolethalus syndrome, SLSN, JBTS, BBS.