Abstract
Acrocallosal syndrome is a rare genetic disorder that is apparent at birth inherited as an autosomal recessive disorder. It is usually seen in consanguineous parents. The main characteristics of this condition consist of mental retardation, hypotonia, agenesis of the corpus Callosum and pre-axial polydactyly involving both feet and the facial features consist of a prominent broad forehead and hypertelorism. Prognosis is dependent on the degree of hypotonia and early onset of epilepsy rather than the degree of craniofacial and limbs malformations. Neonatal respiratory distress & intercurrent infections are the leading cause of early death in these children. We have reviewed the literature to delineate the syndrome in detail. In our case inguinal hernia was a new finding to this syndrome. Antenatal diagnosis is possible for better prevention of this genetic disorder. Acrocallosal syndrome should be suspected in any child with polysyndactyly, absence of corpus Callosum, mental retardation and hypotonia.
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