Meckel syndrome 5

Meckel syndrome, type 5 (MKS5) is a rare and severe genetic disorder that affects multiple parts of the body. The most common features associated with MKS5 are:

• Renal cysts: Enlarged kidneys with numerous fluid-filled cysts
• Developmental anomalies of the central nervous system: Abnormalities in brain development, including an occipital encephalocele (a sac-like protrusion of the brain through an opening at the back of the skull)
• Hepatic ductal dysplasia and cysts: Abnormalities in liver development, including cysts
• Polydactyly: Extra fingers or toes

MKS5 is caused by a homozygous or compound heterozygous mutation in the RPGRIP1L gene on chromosome 16q12.2 [5][6]. This genetic mutation leads to the severe signs and symptoms associated with MKS5.

Meckel syndrome, type 5 is a very rare disorder, and its exact prevalence is unknown. However, it is considered a lethal condition, meaning that affected individuals typically do not survive beyond birth or early infancy due to the severity of their symptoms [10][11].

References:

• [5] Meckel syndrome, type 5 (MKS5) is caused by homozygous or compound heterozygous mutation in the RPGRIP1L gene (610937) on chromosome 16q12.
• [6] Meckel syndrome type 5 (MKS5) is caused by homozygous or compound heterozygous mutation in the RPGRIP1L gene (610937) on chromosome 16q12.
• [10] Disease at a Glance. Summary. Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver ...
• [11] Description. Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and ...

Meckel syndrome can cause problems with development of various body systems, including:

• Facial features: The condition may affect the development of facial features, such as the eyes [1].
• Heart: There may be issues with heart development [1].
• Bones: Meckel syndrome can also impact bone growth and development [1].
• Urinary system: The condition may cause problems with the urinary system, including enlarged kidneys with numerous fluid-filled cysts [4][8].
• Genitalia: Development of genitalia may be affected as well [1].

It's worth noting that Meckel syndrome is a rare genetic disorder, and its symptoms can vary widely from person to person. However, in many cases, the condition is characterized by enlarged kidneys with numerous fluid-filled cysts, which is a constant feature of Meckel syndrome [2].

Meckel syndrome type 5 can be diagnosed through various genetic tests that identify mutations in the RPGRIP1L gene.

• Sequence analysis of select exons: This test involves analyzing specific parts of the RPGRIP1L gene to detect any mutations or variations [2].
• Targeted variant analysis: This test focuses on identifying specific variants or mutations in the RPGRIP1L gene that are associated with Meckel syndrome type 5 [2].
• Deletion/duplication analysis: This test examines the RPGRIP1L gene for any deletions or duplications of genetic material, which can contribute to the development of Meckel syndrome type 5 [17].
• Mutation scanning of select exons: This test involves analyzing specific parts of the RPGRIP1L gene to detect any mutations or variations that may be associated with Meckel syndrome type 5.

These diagnostic tests are typically performed on a blood sample or other tissue, and can provide a definitive diagnosis of Meckel syndrome type 5 [6].

It's worth noting that prenatal testing is also available for Meckel syndrome type 5, which can detect the condition as early as 11-14 weeks of gestation through ultrasound examination [4].

Unfortunately, there is no effective treatment available for Meckel syndrome, which has a constantly fatal outcome. According to search result [9], the condition is always fatal, with only 2 reported cases where individuals lived beyond infancy.

However, in some cases, iron supplements may be recommended by doctors to treat anemia resulting from the Meckel's diverticulum, a congenital defect that can cause complications (search result [7]).

It's worth noting that treatment options for asymptomatic Meckel diverticulum are also controversial, with some medical professionals recommending surgery versus observation (search result [8]). However, this is not directly related to the treatment of Meckel syndrome itself.

In summary, while there may be some supportive treatments available, such as iron supplements, there is currently no effective treatment for Meckel syndrome.

Differential Diagnosis of Meckel Syndrome

Meckel syndrome, also known as Meckel-Gruber syndrome (MKS), is a rare and lethal autosomal recessive disorder characterized by anomalies of the central nervous system resulting in mental retardation. The differential diagnosis for MKS includes several other conditions that present with similar symptoms.

Conditions to Consider:

• Autosomal Recessive Polycystic Kidney Disease (ARPKD): This condition is characterized by cysts in the kidneys, which can lead to renal failure and other complications.
• Trisomy 13: A genetic disorder caused by an extra copy of chromosome 13, leading to severe intellectual disability and physical abnormalities.
• Smith-Lemli-Opitz Syndrome (SLOS): A rare genetic disorder characterized by a deficiency in the enzyme 7-dehydrocholesterol reductase, leading to developmental delays and physical abnormalities.
• Hydrolethalus Syndrome: A rare genetic disorder characterized by severe intellectual disability, hydrocephalus, and other physical abnormalities.

Key Features to Consider:

• Renal cystic dysplasia
• Occipital encephalocele
• Postaxial polydactyly
• Bilateral renal cysts

These conditions should be considered in the differential diagnosis of Meckel syndrome. A thorough evaluation and diagnostic workup are necessary to determine the correct diagnosis.

References: [5] Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive disorder characterized by anomalies of the central nervous system resulting in mental retardation. [8] Differential diagnosis for MKS includes autosomal recessive PKD, trisomy 13, Smith-Lemli-Opitz syndrome.