Syndromic Craniosynostosis

Syndromic craniosynostosis is largely genetic in origin, in which a baby has inherited a gene from a parent or has a fresh mutation in a specific gene. There are several different types and treatment varies accordingly.

Apert Syndrome

The incidence of Apert syndrome is approximately 1 in 100,000 births and most cases are spontaneous genetic mutations (as opposed to being passed genetically from parents).

  • Often bicoronal craniosynostosis, in which both coronal sutures close prematurely.
  • A tall-shaped skull
  • Underdeveloped midface which gives the eyes a prominent appearance (known as exophthalmos)
  • Differences of the extremities, such as webbing of the fingers and toes

Carpenter Syndrome

Carpenter Syndrome is a rare autosomal recessive genetic disorder.

  • Tall-shaped head due to craniosynostosis
  • Additional or webbed fingers or toes
  • Possible heart, vision, and dentition abnomalities
  • Small upper and lower jaw

Crouzon’s Syndrome

The incidence of Crouzon’s syndrome is approximately 1 in 25,000 births. It may be transmitted as an autosomal dominant genetic condition or appear as a fresh mutation.

  • Often bicorononal craniosynostosis, in which both coronal sutures close prematurely.
  • Underdeveloped midface which gives the eyes a prominent appearance (exophthalmus), with a prominent lower jaw.

Pfeiffer Syndrome

This condition affects approximately 1 in 100,000 births. The associated craniosynostosis most often involves the coronal suture but can involve sagittal and lambdoid sutures as well.

  • High forehead and an underdeveloped midface which gives the eyes a prominent appearance (exophthalmus)
  • Broad thumbs and big toes
  • Possible hearing impairment
  • Small nasal passages (choanal atresia) and a prominent lower jaw that protrudes

Saethre-Chotzen Syndrome

Saethre-Chotzen Syndrome is incident in 1 in 50,000 births and is transmitted by an autosomal dominant genetic pattern (from a parent) or by a fresh genetic mutation.

  • Craniosynostosis most frequently of the coronal sutures that results in a tall forehead and skull
  • Ears may by low-set.
  • Shallow eye sockets (or orbits). The patient may have crossed eyes and/or wide-set eyes.
  • Droopy eyelids (ptosis)
  • Fused fingers and/or toes