1. Background

• first reported in 1894 by S.W. Wheaton
• nine cases summarized by Apert in 1906
• one of 4 Acrocephalosyndactyly Syndromes
• Type I: Apert Syndrome
• Type II: Apert-Crouzon Syndrome
• Type III: Chotzen Syndrome (Saethre-Chotzen)
• Type V: Pfeiffer Syndrome
• different from one of the Acrocephalopolysyndactyly Syndromes
  Type I: Noack Syndrome
  Type II: Carpenter Syndrome
  Type III: Sakati-Nyhan Syndrome
  Type IV: Goodman Syndrome

2. Genetic Defect

• genetic defect -> abnormal osseous development -> irregular bridging between the early islands of mesenchymal blastema that eventually forms bone particularly in the cranium and distal extremities -> craniosynostosis and syndactyly
• genetic defect may also affect the organization of other tissues so assessment for other malformations may be necessary - Type II (Apert-Crouzon Syndrome) is likely a variant of Apert Syndrome with the syndactyly and other digital anomalies of Apert Syndrome but the facial features of Crouzon Syndrome

1. Craniosynostosis

• coronal sutures most commonly involved producing:
  • acrocephaly (cone-shaped head)
  • brachycephaly (shortened A-P diameter)
  • flat occiput
  • high prominent forehead

2. Syndactyly

• may involve the hands and feet giving a spoon-like deformity
  • ranges from partial to complete fusion of the digits
  • most often digits 2, 3, and 4 are involved

3. Facial Features

• fontanelles large and late-closing
• supraorbital horizontal groove
• flattened face with maxillary hypoplasia
• asymmetric face
• prominent mandible
• ears
  • low set
  • hearing loss
• ocular
  • downslanting palpebral fissures - hypertelorism
  • shallow orbits with exophthalmos - strabismus
• nose
  • depressed nasal bridge
  • small, anteverted nose
• mouth
  • down-turned corners - high-arched palate
  • crowded upper teeth - cleft palate (in 30%)

4. Other Features

1. Imaging Studies

1. Supportive

• no treatment for underlying disorder
• multidisciplinary approach
  • Paediatrics, Orthopedics, Neurology, Plastics, Psychology,
  • Neurosurgery, OT, PT
• genetic counselling
  • recurrence risk is not elevated with unaffected parents but
  • 50% with one affected parent

2. Surgery

• surgical repair of:
  • craniosynostosis +/- complications such as elevated intra-cranial pressure
  • syndactyly - corrective surgery
  • facial dysmorphisms - cosmetic reconstruction

3. Prognosis

• depends upon the severity of the condition