Meckel–Gruber syndrome

Meckel syndrome
Other namesMeckel–Gruber syndrome, Gruber syndrome, Dysencephalia splanchnocystica
Embryos with mutation in MKS1KRC, a cause of Meckel syndrome.
SpecialtyMedical genetics 
Named after
  • Johann Meckel
  • Georg Gruber

Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (postaxial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.[1][2] Meckel–Gruber syndrome is named for Johann Meckel and Georg Gruber.[3][4][5] The prognosis for infants born with Meckel-Gruber syndrome is poor, most being stillborn or dying within hours to days.

  1. ^ Hartill, Verity; Szymanska, Katarzyna; Sharif, Saghira Malik; Wheway, Gabrielle; Johnson, Colin A. (2017-11-20). "Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances". Frontiers in Pediatrics. 5: 244. doi:10.3389/fped.2017.00244. ISSN 2296-2360. PMC 5701918. PMID 29209597.
  2. ^ Aslan, K.; Külahçı Aslan, E.; Orhan, A.; Atalay, M. A. (2015). "Meckel Gruber syndrome, A case report". Organogenesis. 11 (2): 87–92. doi:10.1080/15476278.2015.1055431. PMC 4594365. PMID 26037304.
  3. ^ synd/2055 at Whonamedit?
  4. ^ J. F. Meckel. Beschreibung zweier durch sehr ähnliche Bildungsabweichungen entstellter Geschwister. Deutsches Archiv für Physiologie, 1822, 7: 99–172.
  5. ^ G. B. Gruber. Beiträge zur Frage "gekoppelter" Missbildungen (Akrocephalossyndactylie und Dysencephalia splancnocystica. Beitr path Anat, 1934, 93: 459–476.
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