Carpenter syndrome, also called ACPS type2, belongs to a group of rare genetic disorder known as acrocephalosyndactyly, (ACPS). This condition is characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Mutations in the RAB23 gene, located on chromosome 6 and mutations in MEGF8 gene, located on chromosome 19 at 19q13.2, have been identified as primary causes of Carpenter syndrome. Pattern of inheritance is autosomal recessive. We report a case of Carpenter Syndrome in a male baby, 2 months old, born of consanguineous parents.

Keywords: Craniosynostosis, Acrocephaly, Postaxial Polydactyli