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Meckel syndrome 3
ICD-10 Codes
Related ICD-10:
Description
Meckel Syndrome, Type 3: A Rare Genetic Disorder
Meckel syndrome, type 3 is a rare autosomal recessive disorder characterized by specific abnormalities in the body.
- Renal Cystic Dysplasia: This condition involves the development of cysts in the kidneys, which can lead to kidney dysfunction.
- Central Nervous System Anomalies: Individuals with Meckel syndrome, type 3 may experience developmental anomalies in the central nervous system, including occipital encephalocele (a sac-like protrusion of the brain).
- Other Associated Features: This condition is often associated with other abnormalities, such as microphthalmia (small eyes) and polydactyly (extra fingers or toes).
Meckel syndrome, type 3 is a severe genetic disorder that affects multiple organ systems in the body. It is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene to pass it on to their offspring.
References:
- [5] Meckel syndrome, type 3 is an autosomal recessive disorder characterized by renal cystic dysplasia, central nervous system anomalies (such as occipital encephalocele), and other associated features.
- [8] A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system, such as those seen in Meckel syndrome, type 3.
Additional Characteristics
- Polydactyly
- Microphthalmia
- Occipital Encephalocele
- Renal Cystic Dysplasia
- Central Nervous System Anomalies
Signs and Symptoms
Common Features of Meckel Syndrome
Meckel syndrome, also known as Meckel-Gruber syndrome, is a rare genetic disorder that affects the development of various organs and systems in the body. The most common features of this condition include:
- Enlarged kidneys with numerous fluid-filled cysts: This is one of the hallmark signs of Meckel syndrome, where the kidneys are significantly enlarged due to the presence of multiple cysts.
- Occipital encephalocele: A sac-like protrusion of the brain tissue through a defect in the occipital bone at the back of the skull.
- Polydactyly: The presence of extra fingers or toes, which can occur on either side of the body.
These features are often present from birth and can be detected during prenatal ultrasound examinations. In some cases, additional symptoms may also be present, such as issues with the eyes, heart, bones, urinary system, and genitalia [1][3][4].
References:
[1] Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia. (Source: Search result 1) [3] May 1, 2012 — The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain tissue through a defect in the occipital bone at the back of the skull. (Source: Search result 3) [4] Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia. (Source: Search result 4)
Additional Symptoms
- Occipital encephalocele
- Polydactyly
- Enlarged kidneys with numerous fluid-filled cysts
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 this condition are crucial for an accurate diagnosis.
Diagnostic Tests:
- Ultrasound: The most common diagnostic test for Meckel syndrome is ultrasound examination during pregnancy or at birth. This test can detect enlarged kidneys with numerous cysts, polydactyly (extra fingers or toes), and other characteristic features of the condition [3][9].
- Molecular Genetics Tests: These tests involve analyzing DNA to identify mutations in the known MKS genes. The most common molecular genetics tests for Meckel syndrome include:
- Sequence analysis of select exons [5]
- Targeted variant analysis [5]
- Deletion/duplication analysis [5]
- Mutation scanning of select genes [5]
- Genetic Testing: Genetic testing is the definitive diagnostic test for Meckel syndrome. It involves analyzing DNA to identify mutations in the MKS1 and MKS3 genes, among others [6][7].
- Pathology: In some cases, pathology tests may be performed to confirm the diagnosis of Meckel syndrome. These tests involve examining tissue samples from affected organs or tissues.
References:
[3] May 1, 2012 — Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. [5] Molecular Genetics Tests · Sequence analysis of select exons (2) · Targeted variant analysis (2) · Deletion/duplication analysis (17) · Mutation scanning of select ... [6] by CP Chen · 2007 · Cited by 104 — The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, ... [7] 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. Molecular diagnostic strategies ... [9] Nov 10, 2024 — The definitive diagnosis is made by genetic testing
Additional Diagnostic Tests
- Ultrasound
- Genetic Testing
- Molecular Genetics Tests (Sequence analysis of select exons)
- Molecular Genetics Tests (Targeted variant analysis)
- duplication analysis)
- Molecular Genetics Tests (Mutation scanning of select genes)
- Pathology
Treatment
Current Drug Treatment for Meckel Syndrome
Unfortunately, there is no specific treatment available for Meckel syndrome, which has a constantly fatal outcome [2]. However, in some cases, supportive care may be provided to manage the symptoms and complications associated with this condition.
- Oxygen administration: In newborns affected by Meckel syndrome, oxygen therapy may be administered to help stabilize their respiratory system [4].
- Intravenous fluids and antibiotics: Management of the baby involved administering intravenous fluids and antibiotics to prevent or treat infections [4].
- Urgent antibiotic regimen: A regimen of antibiotics (e.g., ampicillin, gentamicin, and clindamycin or cefotetan) should be urgently administered to manage potential bacterial infections [5].
It's essential to note that these treatments are primarily aimed at managing symptoms and preventing complications rather than curing the underlying condition. The prognosis for Meckel syndrome is generally poor, with most infants being stillborn or dying within a few hours or days after birth [7].
Recommended Medications
- Intravenous fluids and antibiotics
- Urgent antibiotic regimen
- Oxygen
- oxygen atom
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Meckel syndrome, type 3 is an autosomal recessive disorder characterized by renal cystic dysplasia, central nervous system anomalies (such as occipital encephalocele), and other systemic abnormalities.
Possible Differential Diagnoses:
- Trisomy 13: A genetic disorder that can cause similar features to Meckel syndrome, including developmental delays, intellectual disability, and physical abnormalities.
- Autosomal dominant polycystic kidney disease (PKD): A genetic disorder that affects the kidneys and can cause cysts to form on them, which may be a differential diagnosis for Meckel syndrome's renal cystic dysplasia feature.
- Smith-Lemli-Opitz syndrome (SLOS): A rare genetic disorder that can cause similar features to Meckel syndrome, including developmental delays, intellectual disability, and physical abnormalities.
Other Considerations:
- Hydrolethalus syndrome: A rare genetic disorder that can cause similar features to Meckel syndrome, including developmental delays, intellectual disability, and physical abnormalities.
- Senior-Løken syndrome (SLSN): A rare genetic disorder that can cause similar features to Meckel syndrome, including developmental delays, intellectual disability, and physical abnormalities.
- Joubert syndrome (JBTS): A rare genetic disorder that can cause similar features to Meckel syndrome, including developmental delays, intellectual disability, and physical abnormalities.
- Bardet-Biedl syndrome (BBS): A rare genetic disorder that can cause similar features to Meckel syndrome, including developmental delays, intellectual disability, and physical abnormalities.
These differential diagnoses are based on the information provided in [8] and [9].
Additional Differential Diagnoses
Additional Information
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- A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1.
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