Recurrence risks for congenital hydrocephalus

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Abstract
To assess the contribution of genetic factors to the etiology of congenital hydrocephalus and to establish empiric recurrence risks for use in genetic counseling, records were reviewed on all patients with this diagnosis seen from 1968 to 1977. A total of 205 patients with documented hydrocephalus were identified in whom a specific non‐genetic etiology could not be established. Of the 205 patients, 88 (57 M, 31 F) had aqueductal obstruction, 77 (49 M, 28 F) had communicating hydrocephalus, 26 (8 M, 18 F) had the Dandy‐Walker syndrome, and 14 (7 M, 7 F) had other anatomic lesions. The 205 patients had a total of 353 full siblings, five with hydrocephalus (1.4 %). Of these five, four were male siblings of male patients with aqueductal obstruction, suggesting that these patients constitute a subgroup at high risk of having a genetic disorder. The overall recurrence rate among siblings of this group was 6 % (12 % for male sibs), suggesting that up to 25 % of cases of aqueductal obstruction in males may be the result of an X‐linked recessive disorder. The recurrence risk for siblings of other patients with hydrocephalus appears to be quite low.