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
