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Meckel syndrome 2

ICD-10 Codes

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Description

Meckel syndrome 2, also known as MKS2, is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly [1][5][8].

This condition is a subset of Meckel syndrome, which is a ciliopathy characterized by abnormal development of various organs and tissues due to defects in the cilia-mediated signaling pathways [9]. The symptoms of Meckel syndrome 2 are similar to those of other forms of Meckel syndrome, but with some distinct features.

The most common features of Meckel syndrome 2 include:

  • Enlarged kidneys with numerous fluid-filled cysts
  • An occipital encephalocele, which is a sac-like protrusion of the brain through an opening in the skull
  • Postaxial polydactyly, which is extra fingers or toes

Other associated abnormalities may include cleft lip/palate, cardiac and genital anomalies [3][5].

Meckel syndrome 2 is caused by mutations in the TMEM216 gene, which plays a crucial role in the development of various organs and tissues during embryogenesis [7]. The genetic heterogeneity of Meckel syndrome 2 means that it can be caused by different mutations in this gene.

Overall, Meckel syndrome 2 is a rare and severe disorder that affects multiple organ systems and has significant implications for affected individuals and their families.

Additional Characteristics

  • palate
  • occipital meningoencephalocele
  • enlarged kidneys with multicystic dysplasia
  • fibrotic changes in the portal area of the liver
  • ductal proliferation
  • postaxial polydactyly
  • cardiac and genital anomalies

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 Meckel syndrome can vary from person to person, but they often 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 and contain many cysts (resulting in [3] and [7]).
  • Posterior encephalocele: A sac-like protrusion of the brain tissue through a defect in the skull, which can be present at birth (resulting from [4] and [5]).
  • Polydactyly: Extra fingers or toes, which can occur on either hand or foot (resulting from [4] and [9]).
  • Abnormalities of the eyes: The eyes may appear smaller than normal, lack or have underdeveloped nerves connecting to them, or have other abnormalities (resulting from [6] and [2]).
  • Occipital encephalocele: A condition where an infant is born with a sac-like protrusion of the brain tissue through a defect in the occipital bone at the back of the skull (resulting from [3] and [7]).
  • Mysterious abdominal pain or painless rectal bleeding: Rarely, Meckel syndrome can cause these symptoms, especially in children under 2 years old (resulting from [5] and [8]).

It's essential to note that not everyone with Meckel syndrome will exhibit all of these signs and symptoms. The severity and combination of features can vary significantly between individuals.

Additional Symptoms

  • Occipital encephalocele
  • Polydactyly
  • Posterior encephalocele
  • Enlarged kidneys with numerous fluid-filled cysts
  • Abnormalities of the eyes
  • Mysterious abdominal pain or painless rectal bleeding

Diagnostic Tests

Meckel syndrome, also known as Meckel-Gruber syndrome, is a rare genetic disorder that affects multiple systems in the body. Diagnostic tests for Meckel syndrome type 2 are crucial for establishing an accurate diagnosis and providing appropriate care.

Diagnostic Tests:

  • Ultrasound examination: This non-invasive test can detect the characteristic features of Meckel syndrome, such as enlarged kidneys with cysts, polydactyly (extra fingers or toes), and other abnormalities, as early as 11-14 weeks of gestation [4].
  • Molecular genetic testing: DNA testing can be used to screen for mutations in the known MKS genes, which is essential for definitive diagnosis [6]. This test can also identify at-risk families and provide accurate genetic counseling.
  • Sequence analysis of select exons: This molecular genetics test involves analyzing specific parts of the gene to detect mutations that may cause Meckel syndrome type 2 [3].
  • Targeted variant analysis: This diagnostic test focuses on identifying specific genetic variants associated with Meckel syndrome type 2 [1, 3].

Other Diagnostic Methods:

  • Meckel's scan: Although not specifically mentioned in the context of Meckel syndrome type 2, a Meckel's scan (a nuclear medicine imaging scan) may be used to diagnose other conditions related to Meckel's diverticulum [9]. However, this is not directly relevant to Meckel syndrome type 2.

It is essential to consult with a medical professional for an accurate diagnosis and treatment plan. They will determine the most suitable diagnostic tests based on individual circumstances.

References: [1] Molecular Genetics Tests · Targeted variant analysis (9) [3] Molecular Genetics Tests · Sequence analysis of select exons (2) · Targeted variant analysis (2) [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 ... [6] by V Hartill · 2017 · Cited by 161 — Definitive diagnosis is often possible by using DNA testing to screen for mutations in the known MKS genes.

Additional Diagnostic Tests

  • Ultrasound examination
  • Targeted variant analysis
  • Sequence analysis of select exons
  • Molecular genetic testing

Treatment

Unfortunately, there is no specific drug treatment for Meckel syndrome, which has a constantly fatal outcome [1]. However, in some cases, management of the baby may involve administering oxygen, intravenous fluids, and antibiotics to manage symptoms and prevent infection [4].

In terms of medical treatment, it's worth noting that Meckel-Gruber syndrome is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of cilia [10]. As such, there is no definitive therapy for the condition.

It's also important to note that Meckel syndrome is often associated with enlarged kidneys and multicystic dysplasia, which can be a significant challenge to manage [2]. In some cases, urgent administration of antibiotics may be necessary to prevent or treat infection [5].

However, it's essential to consult with a healthcare professional for medical advice and treatment, as they can provide personalized guidance on managing symptoms and providing supportive care [9].

References: [1] Context result 1 [2] Context result 2 [4] Context result 4 [5] Context result 5 [9] Context result 9 [10] Context result 10

Recommended Medications

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Differential Diagnosis

Meckel syndrome, also known as Meckel-Gruber syndrome, is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly, and bilateral renal cysts. The differential diagnosis of Meckel syndrome includes several malformation syndromes with similar features.

Possible Differential Diagnoses:

  • Trisomy 13: A genetic disorder that can cause developmental abnormalities in the eyes, face, heart, bones, urinary system, and genitalia.
  • Autosomal dominant polycystic kidney disease (PKD): A genetic disorder that can cause cysts to form on the kidneys.
  • Smith-Lemli-Opitz syndrome (SLOS): A genetic disorder that can cause developmental abnormalities in the eyes, face, heart, bones, urinary system, and genitalia.
  • Hydrolethalus syndrome: A rare genetic disorder that can cause developmental abnormalities in the eyes, face, heart, bones, urinary system, and genitalia.
  • Senior-Loken syndrome (SLSN): A rare genetic disorder that can cause developmental abnormalities in the eyes, face, heart, bones, urinary system, and genitalia.
  • Joubert-Syndrome (JBTS): A rare genetic disorder that can cause developmental abnormalities in the eyes, face, heart, bones, urinary system, and genitalia.
  • Bardet-Biedl syndrome (BBS): A rare genetic disorder that can cause developmental abnormalities in the eyes, face, heart, bones, urinary system, and genitalia.

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Additional Information

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