We describe three children with Hirschsprung's disease and microcephaly, two of whom
also have an iris coloboma. Two of the children, one with a coloboma and one without, are
from the same consanguineous pedigree. The third case is unrelated and was identified by
the matching program of the London Dysmorphology Database. This is the first report of this
combination of features which are considered to be secondary to defective neuronal
migration. An autosomal recessive mode of inheritance is proposed.

Unknown syndrome : Hirschsprung's disease, microcephaly, and iris coloboma : a new syndrome
of defective neuronal migration | CiNii Research … Unknown syndrome : Hirschsprung's
disease, microcephaly, and iris coloboma : a new syndrome of defective neuronal migration …