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Apert's Syndrome (Acrocephalosyndactyly)
Dr Ira Shah
M.D, DNB, DCH(Gold Medalist), FCPS

This condition was first described by Wheaton in 1894. In 1906, Apert described 9 cases of acrocephalosyndactyly.

These children presented with irregular craniosynostosis with high, full forehead and flat occiput and early fusion of the coronal sutures. The fontanelles are large and close late. They have flat facies, shallow orbits, hypertelorism, strabismus, small nose, maxillary hypoplasia, and a narrow palate with or without a bifid uvula.

These children have varying form of osseous and/or cutaneous syndactyly leading to total or partial fusion of fingers and toes. Sometimes there may be synostosis of radius and humerus. Mental deficiency may be present or may be normal.

Other associated anomalies that may be seen are pyloric stenosis, ectopic anus, pulmonary aplasia, pulmonary arterial and valve abnormality, heart defects, polycystic kidneys and bicornuate uterus.

The major complication is increased intracranical pressure due to craniosynostosis for which early surgery may be required. Since it is an autosomal dominant condition with most cases being fresh mutations, the recurrence risk for unaffected parents of a child with Apert syndrome is negligible whereas it is 50% for the offspring of affected individual. Older paternal age is postulated as one of the risk factors.

References
  1. Apert Syndrome – Smith’s Recognizable Patterns of Human Malformations – 4th ed, Kenneth Lyons Jones, W.B.Saunders – Philadelphia. Pg.372-373.
Last Updated on 11-08-2007

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