4 free views remaining today
Meckel syndrome 6
ICD-10 Codes
Related ICD-10:
Description
Meckel syndrome, type 6 (MKS6) is a severe congenital disorder characterized by the presence of occipital encephalocele, cystic dysplasia of the kidneys, and hepatic ductal abnormalities. This condition is caused by a homozygous mutation in the CC2D2A gene on chromosome 4p15.
The clinical features of Meckel syndrome, type 6 include:
- Occipital encephalocele: A sac-like protrusion of the brain tissue through a defect in the occipital bone.
- Cystic dysplasia of the kidneys: Enlarged kidneys with numerous fluid-filled cysts.
- Hepatic ductal abnormalities: Abnormal development of the bile ducts.
Meckel syndrome, type 6 is a rare and lethal disorder, meaning that it is usually fatal in infancy. The condition is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.
It's worth noting that Meckel syndrome, type 6 is one of several subtypes of Meckel syndrome, a rare genetic disorder characterized by abnormalities affecting multiple organ systems. The other subtypes include MKS1, MKS2, and MKS3, among others.
References: * [6] - Meckel syndrome, type 6 (MKS6) is caused by homozygous mutation in the CC2D2A gene on chromosome 4p15. * [7] - Meckel syndrome, type 6 is a disorder characterized by renal cysts, central nervous system developmental anomalies (such as encephalocele), hepatic ductal abnormalities. * [8] - Meckel syndrome, type 6 (MKS6) is a severe congenital disorder defined by the presence of occipital encephalocele, cystic dysplasia of the kidneys, and hepatic ductal abnormalities.
Additional Characteristics
- Occipital encephalocele
- Cystic dysplasia of the kidneys
- Hepatic ductal abnormalities
Signs and Symptoms
Common Signs and Symptoms of Meckel Syndrome
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 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 due to the presence of many cysts [1].
- Occipital encephalocele: A sac-like protrusion of the brain and meninges through a defect in the occipital bone at the back of the skull [2].
- Polydactyly: Extra fingers or toes, often present on the outer edge of the small outer finger (pinky) [3].
- Cleft palate and cleft upper lip: A congenital deformity where there is a gap in the roof of the mouth and/or the upper lip.
- Microphthalmia: Small eyes that may be underdeveloped or missing altogether.
- Bile duct proliferation: An abnormal growth of bile ducts, which can lead to liver problems.
These symptoms are often present at birth and can vary in severity. In some cases, Meckel syndrome can also cause problems with development of the heart, bones, urinary system, and genitalia [4].
Additional Symptoms
- Occipital encephalocele
- Polydactyly
- Enlarged kidneys with numerous fluid-filled cysts
- Bile duct proliferation
- Microphthalmia
- Cleft palate and cleft upper lip
Diagnostic Tests
Meckel syndrome, also known as Meckel-Gruber syndrome, can be diagnosed through various diagnostic tests.
- Ultrasound examination: This is the primary method for diagnosing Meckel syndrome, and it can be established by ultrasound examination as early as 11-14 weeks of gestation [7]. The three major manifestations of the condition can be seen during this time, making it possible to make a definitive diagnosis [10].
- DNA testing: Definitive diagnosis is often possible by using DNA testing to screen for mutations in the known MKS genes [9]. This test involves sequencing and deletion/duplication analysis of all the listed genes.
- Molecular diagnostic strategies: Molecular diagnostic strategies, such as sequencing and deletion/duplication analysis, are also used to diagnose Meckel syndrome [9].
It's worth noting that diagnosis may be made on fetal ultrasonography showing occipital encephalocele and dysplastic kidneys, which is a characteristic feature of the condition [2].
Additional Diagnostic Tests
- DNA testing
- Ultrasound examination
- Molecular diagnostic strategies
Treatment
Meckel Syndrome Drug Treatment
Unfortunately, there is no specific drug treatment available for Meckel syndrome, a severe disorder that affects multiple parts of the body. However, some treatments may be used to manage certain symptoms associated with this condition.
- Iron supplements: In some cases, iron supplements may be recommended by doctors to treat anemia resulting from Meckel's diverticulum (a congenital defect in the intestine) [7].
- Surgery: While not a direct treatment for Meckel syndrome, surgery may be necessary to repair complications related to Meckel's diverticulum, such as intestinal obstruction or bleeding [3].
It is essential to note that Meckel syndrome has a constantly fatal outcome, and no treatment can cure this condition. The focus of medical care is often on managing symptoms and providing supportive care for affected individuals.
References: [1] Not applicable (Meckel syndrome context) [3] Context result 3 [7] Context result 7
💊 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 for Meckel Syndrome
Meckel syndrome, also known as Meckel-Gruber syndrome, 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.
Conditions with Similar Features:
- Autosomal Recessive Polycystic Kidney Disease (ARPKD): This condition is characterized by the development of cysts in the kidneys and can be associated with polydactyly and encephalocele, similar to Meckel syndrome.
- Trisomy 13: A genetic disorder that affects physical and mental development, often presenting with abnormalities such as cleft palate, polydactyly, and encephalocele.
- Smith-Lemli-Opitz Syndrome (SLOS): A rare genetic disorder caused by a deficiency of the enzyme 7-dehydrocholesterol reductase, leading to developmental abnormalities similar to Meckel syndrome.
- Hydrolethalus Syndrome: A severe congenital disorder characterized by hydrocephalus, polydactyly, and other physical abnormalities.
- Senior-Løken Syndrome (SLSN): A rare genetic disorder that affects the development of multiple organ systems, including the eyes, ears, and kidneys.
These conditions are part of the differential diagnosis for Meckel syndrome, as they can present similar symptoms. Accurate diagnosis requires a comprehensive evaluation by a medical professional.
References: * [2] - Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-... * [6] - Differential diagnosis for MKS includes autosomal recessive PKD, trisomy 13, Smith-Lemli-Opitz syndrome. (SLOS), hydrolethalus syndrome, SLSN, JBTS, BBS, and. * [9] - Differential Diagnosis. The differential diagnosis of MKS includes a number of malformation syndromes with similar features (Box 2-3), such as Smith-Lemli...
Additional Differential Diagnoses
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0070120
- core#notation
- DOID:0070120
- oboInOwl#hasDbXref
- MIM:612284
- IAO_0000115
- A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32.
- rdf-schema#label
- Meckel syndrome 6
- oboInOwl#hasExactSynonym
- MKS6
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0050778
- relatedICD
- http://example.org/icd10/Q61.9
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1992
- owl#annotatedSource
- t345886
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.