Meckel Gruber syndrome
Meckel-Gruber Syndrome
Meckel-Gruber Syndrome (pronounced: MEK-el GROO-ber SIN-drome), also known as MKS, is a rare, lethal, genetic disorder characterized by the presence of multiple organ malformations.
Etymology
The syndrome is named after the German pathologist Johann Friedrich Meckel, who first described a case in 1822, and the Swiss pediatrician Enid Gilbert-Barness Gruber, who further defined the syndrome in 1934.
Definition
Meckel-Gruber Syndrome is a ciliopathy that affects many parts of the body. The most common features are encephalocele (a brain malformation), polycystic kidney disease, and polydactyly (extra fingers or toes). Other features may include cleft palate or lip, microphthalmia (small eyes), and microcephaly (small head).
Genetics
Meckel-Gruber Syndrome is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Diagnosis
Diagnosis of Meckel-Gruber Syndrome can be challenging due to the variability of symptoms. It is often diagnosed through ultrasound during pregnancy when the characteristic malformations are detected. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Meckel-Gruber Syndrome. Treatment is supportive and depends on the specific symptoms present in each individual.
Prognosis
The prognosis for individuals with Meckel-Gruber Syndrome is poor. Most affected individuals die before or shortly after birth.
See Also
- Genetic disorder
- Autosomal recessive inheritance
- Ciliopathy
- Polycystic kidney disease
- Encephalocele
- Polydactyly
External links
- Medical encyclopedia article on Meckel Gruber syndrome
- Wikipedia's article - Meckel Gruber syndrome
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