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.
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 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
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.
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 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 Austin patient may have crossed eyes and/or wide-set eyes.
- Droopy eyelids (ptosis)
- Fused fingers and/or toes
Contact our office in Austin at 512-600-2888 to schedule a syndromic Craniosynostosis consultation.