Holoprosencephaly-Postaxial Polydactyly Syndrome

Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).

Epidemiology

Incidence is unknown.

Clinical description

Dysmorphic features include hypotelorism, severe eye anomalies such as microphtalmia or anophtalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common.

Antenatal diagnosis

Antenatal diagnosis is possible by ultrasonographic monitoring.

Genetic counseling

The condition seems to be inherited as an autosomal recessive trait.

Prognosis

Prognosis is poor.