Patients with the Meckel-Gruber Syndrome may show a wide phenotypic spectrum.


Synonym: dysencephalia splanchnocystica


Inheritance: autosomal recessive


Genetic loci:

(1) MKSA1 - chromosome 17q21-q24

(2) MKSA2 - chromosome 11q13

(3) MKSA3 - chromosome 8q24


Common findings:

(1) bilateral cystic renal dysplasia

(2) a malformation of the CNS (occipital encephalomeningocele, Dandy-Walker malformation, microcephaly, anencephaly, holoprosencephaly, cerebral hypoplasia, cerebellar hypoplasia)

(3) polydactyly, usually post-axial


Other findings:

(1) oligohydramnios

(2) cleft palate and/or lip

(3) micrognathia

(4) micro-ophthalmia

(5) nasal anomaly

(6) sloping forehead

(7) cardiac malformations

(8) pulmonary hypoplasia

(9) ductal plate malformations of the liver, with periportal fibrosis

(10) renal hypoplasia or aplasia

(11) ureteral and urethral anomalies

(12) ambiguous external genitalia or defects of internal genitalia

(13) talipes deformity

(14) short limbs


Survival: very limited, with most patients dying soon after birth or in early infancy from renal, pulmonary and/or CNS failure


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