[MIM  249 000, 603 194, 607 361, 611 134, 611 561, 612 284, 613 885, 614 175, 614 209]

Rare: prevalence 1/135.000 but much more frequent in Gujarati Indians, Tatars, Hutterites, in Finland and in some tribes of Koweit or Saudi Arabia.  Autosomal recessive transmission of one of the several genes identified:

MKS1 : MKS1 gene (17q21-q24), (Finland)

MKS2 : TMEM216 gene (11q12.2) (Ashkenazes)

MKS3 : TMEM67 gene (8q22.1) (Pakistan)

MKS4 : CEP290 gene (12q21.32)

MKS5 : RPGRIPL gene (16q12.2) (Europe)

MKS6: CC2D2A gene 4p15.32)

MKS7: NPHP3 gene (3q.22.1) (Finland)

MKS8: TCTN2 gene (12q24.31)

MKS9: B9D1 gene (17q11.2)

MKS10:  B9D2 gene (19q13.2)

MKS11: TMEM321 gene (16q23.1)

MKS12: KIK14 gene (1q321)

MKS13: TMEM107 gene (17q13.1)

All these genes code for proteins of the transitional zone of the cilium of ciliated cells that regulate trafficking of cargo proteins or lipids.

Association of:

-        malformations of the central nervous system: occipital encephalocele (often with holoprosencephaly and agenesis of the Corpus Callosum), sometimes epilepsy

-        postaxial polydactyly

-        abnormalities: polycystic kidneys, ureterovesical anomalies (sometimes: absence of bladder)

and, often, hepatic fibrosis, imperforate anus or  anal atresia;

and, more rarely: microcephaly (and ocular anomalies), micrognathia, cleft lip palate, lung hypoplasia, congenital heart defects (ASD, VSD, coarctation of the aorta).

The facies is typical: flat nose, micrognathia, hypertelorism, slanting forehead, short neck, low set ears.

Most of the patients are stillborn or die shortly after birth.

Anesthetic implications:

check the renal and hepatic functions, preoperative cardiac ultrasound, risk of difficult intubation.

References:

-         Miyasu M, Sobue K, Ito H, Azami T et al. 
Anesthetic and airway management of general anesthesia in a patient with Meckel-Gruber syndrome. 
J Anesth 2005; 19: 309-10.

-        Hartill V, Szymanska K, Sharif SM, Wheway G, Johnson CA.

          Meckel-Gruber syndrome: an update on diagnosis, clinical management and research advances.

          Front Pediatr 2017; 5: 244; doi 10.3389/fped.2017.00244

Updated: January 2019