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Meckel syndrome 7
Description
Meckel syndrome type 7 (MKS7) is an autosomal recessive disorder characterized by a classic phenotypic triad of:
- Cystic renal disease, which involves the development of fluid-filled cysts in the kidneys
- A central nervous system abnormality, such as Dandy-Walker malformation or occipital encephalocele (a sac-like protrusion of the brain through an opening in the skull)
- Hepatic abnormalities, which affect the liver
According to the criteria defined by Meckel, Salonen, and Logan et al., polydactyly (extra fingers or toes) is a variable feature that may be associated with MKS7.
This disorder is designated as Meckel syndrome type 7 based on the classic phenotypic triad of cystic renal disease, central nervous system abnormality, and hepatic abnormalities. The exact genetic cause of MKS7 is not specified in all cases, but it is known to be inherited in an autosomal recessive manner.
References: * [4] Meckel syndrome type 7 is an autosomal recessive disorder characterized by cystic renal disease, central nervous system abnormalities (such as Dandy-Walker malformation), and hepatic abnormalities. * [7] This autosomal recessive disorder is designated Meckel syndrome type 7 (MKS7) based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities, as defined by Meckel (1822), Salonen (1984), and Logan et al. (2011). * [9] This autosomal recessive disorder is designated Meckel syndrome type 7 (MKS7) based on the classic phenotypic triad of (1) cystic renal disease;
Additional Characteristics
- Polydactyly (extra fingers or toes)
- Cystic renal disease
- Central nervous system abnormality, such as Dandy-Walker malformation or occipital encephalocele
- Hepatic abnormalities
Signs and Symptoms
Meckel Syndrome: Signs and Symptoms
Meckel syndrome, also known as Meckel-Gruber syndrome, is a rare genetic disorder that affects multiple parts of the body. The signs and symptoms of this condition can vary greatly from one individual to another.
- Developmental problems: Meckel syndrome can cause problems with development of various organs and systems, including:
- Eyes: Microphthalmia (small eyes) or other eye abnormalities
- Face: Cleft palate, cleft upper lip, or other facial deformities
- Heart: Congenital heart defects
- Bones: Abnormal bone formation or growth
- Urinary system: Enlarged kidneys with fluid-filled cysts
- Genitalia: Abnormalities in the reproductive organs
- Other symptoms: Meckel syndrome can also cause other symptoms, including:
- Polydactyly (extra fingers or toes)
- Bile duct proliferation
- Renal cyst
It's essential to note that not all individuals with Meckel syndrome will exhibit all of these signs and symptoms. The specific symptoms associated with this condition can vary greatly from one person to another.
References:
- [7] Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.
- [8] 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 through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly).
- [10] Signs & Symptoms. The specific symptoms associated with Meckel syndrome vary greatly from one individual to another. Affected children will not have all of the symptoms detailed below. Central nervous system, pulmonary or kidney abnormalities always result in perinatal death.
- [4] Large polycystic kidneys with cystic dysplasia are a constant feature of Meckel syndrome. Hepatic dysgenesis and liver fibrosis are frequent. Polydactyly may also be present.
Additional Symptoms
- Renal cyst
- Polydactyly (extra fingers or toes)
- Congenital heart defects
- Bile duct proliferation
- Microphthalmia (small eyes) or other eye abnormalities
- Cleft palate, cleft upper lip, or other facial deformities
- Abnormal bone formation or growth
- Enlarged kidneys with fluid-filled cysts
- Abnormalities in the reproductive organs
- Occipital encephalocele (a sac-like protrusion of the brain through an opening at the back of the skull)
- Large polycystic kidneys with cystic dysplasia
- Hepatic dysgenesis and liver fibrosis
Diagnostic Tests
Meckel syndrome can be diagnosed through various diagnostic tests, including:
- Ultrasound examination: This test can detect the characteristic features of Meckel syndrome, such as enlarged kidneys with multiple cysts and occipital encephalocele (a type of brain defect) [4].
- DNA testing: Molecular genetic testing can identify mutations in the known MKS genes, which is essential for definitive diagnosis [7]. This test can be performed on fetal tissue or blood samples from affected individuals.
- Sequence analysis of the entire coding region: Next-Generation Sequencing (NGS) can be used to analyze the entire coding region of the NPHP3 gene and identify mutations associated with Meckel-like syndrome [3].
- Clinical Molecular Genetics test: This test is specifically designed for diagnosing NPHP3-related Meckel-like syndrome, which shares some similarities with Meckel syndrome [3].
It's worth noting that definitive diagnosis often requires a combination of these tests, and genetic counseling may be necessary to provide accurate information about the condition.
Additional Diagnostic Tests
- DNA testing
- Sequence analysis of the entire coding region
- Ultrasound examination
- Clinical Molecular Genetics test
Treatment
Current Drug Treatment Options for Meckel Syndrome 7
Meckel Syndrome 7 (MKS7) is a rare and lethal autosomal recessive disorder with no current treatment available to cure the condition. However, based on the search results, it appears that there are some drug treatments that can be administered to manage the symptoms and complications associated with MKS7.
- Antibiotics: According to search result 3, urgently administering a regimen of antibiotics (such as ampicillin, gentamicin, and clindamycin or cefotetan) may be necessary to treat infections related to MKS7.
- Oxygen administration and intravenous fluids: Search result 5 mentions that oxygen administration and intravenous fluid therapy were provided to a baby with MKS7. However, it's essential to note that this treatment did not prevent the fatal outcome.
It is crucial to understand that these treatments are likely aimed at managing symptoms and complications rather than curing the underlying condition. Unfortunately, search result 4 states that "No treatment is currently available for Meckel syndrome which has a constantly fatal outcome."
References:
- Search result 3: Nov 19, 2020 — In addition to definitive therapy, urgently administer a regimen of antibiotics (eg, ampicillin, gentamicin, and clindamycin or cefotetan) ...
- Search result 5: by AEM Kheir · 2012 · Cited by 23 — Management of the baby involved oxygen administration, intravenous fluid fluids and antibiotics. The baby remained sick and distressed and on day three ...
- Search result 4: No treatment is currently available for Meckel syndrome which has a constantly fatal outcome. MKS is lethal in utero or in the very early neonatal period with ...
Recommended Medications
- antibiotics
- intravenous fluids
- 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
Differential Diagnoses of Meckel Syndrome
Meckel syndrome, also known as MKS, is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body. When diagnosing Meckel syndrome, it's essential to consider other conditions that may present similar symptoms.
According to various studies [1], [5], [8], and [9], differential diagnoses for Meckel syndrome include:
- Trisomy 13: A genetic disorder caused by an extra copy of chromosome 13, leading to severe intellectual disability and physical abnormalities.
- Bardet-Biedl Syndrome (BBS): A rare genetic disorder affecting multiple organ systems, including the eyes, kidneys, and reproductive system.
- Hydrolethalus syndrome: A rare genetic disorder characterized by severe developmental delays, intellectual disability, and physical abnormalities.
- Smith-Lemli-Opitz Syndrome (SLOS): A rare genetic disorder caused by a deficiency of 7-dehydrocholesterol reductase, leading to various physical and developmental abnormalities.
These conditions often present with similar symptoms to Meckel syndrome, making differential diagnosis crucial for accurate diagnosis and treatment [1], [5], [8].
References: [1] CP Chen (2007) - Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior ... [5] by AEM Kheir · 2012 · Cited by 23 — Associated abnormalities include oral clefting, genital anomalies; CNS malformations, including Dandy-Walker, Arnold-Chiari malformation, and liver fibrosis. [8] 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. [9] The differential diagnosis of MKS includes a number of malformation syndromes with similar features (Box 2-3), such as Smith-Lemli-Opitz syndrome, hydrolethalus ...
Additional Differential Diagnoses
Additional Information
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