Apert's Syndrome:

Apert's syndrome is an autosomal dominant form of congenital craniosynostosis. It is thought to result from a mutation in a Fibroblast Growth Factor Receptor (FGFR I-IV) which is essential for proper head and extremity development. 
Patients with Apert's syndrome typically have premature fusion (craniosynostosis) of multiple cranial sutures. The ones most commonly effected are the coronal sutures which extend from ear to ear. As a result of this fusion, the head of these patients is shortened from front to back (brachycephalic) and elongated from top to bottom (turricephalic). The eyes of these patients appear to "bulge out" due to the fact that their skull base and mid-face fails to grow in a normal fashion. The palate of these patients is typically high arched and narrows. Dental eruption is typically delayed.

Apert's children also always have some degree of hand and foot webbing called polysyndactyly. This can be of a minor type that only requires skin separation, or a more sever type where there is actual fusion of bone within the hands and feet.
Most Apert's children have normal intelligence. However, varying degrees of mental retardation have been seen with this condition.
Effected areas in Apert's syndrome include:

• Cranial sutures
• Skull growth
• Skull base
• Maxilla
• Cleft palate
• Eye movement
• Orbit position
• Dental development is delayed.
• Webbed hands and wrist problems
• Webbed toes and foot problems
• Speech abnormalities
• Mental development
• Psychologic development
• Chromosomal changes 

Crouzon's Syndrome:

Patients with Crouzon's Syndrome have a similar facial appearance to those with Apert's syndrome. However, there are several important distinctions. Crouzon's patients seldom have macrocephaly, in spite of the fact that they have multiple cranial suture fusions. They have a variable degree of midfacial deficiency and exorbitism. Their hands are completely normal. Their mental development is variable. And their teeth tend not to have the delayed eruption seen in patients with Apert's syndrome.

Pfeiffer's Syndrome:

The patient with Pfeiffer's syndrome is similar to the Apert's and Crouzon's patient. These patients also have a defect in the FGFR gene, which lead to a multi-suture craniosynostosis. However, their midface is usually more severely effected. In many cases, these patients will have severe exorbitism that puts them at risk for corneal exposure and damage. A full ophthalmologic evaluation by an experienced pediatric ophthalmologist is needed, and in some cases these patients need the lateral aspect of their eyelids sewn together to provide adequate protection for the eye (tarsorhaphy). Patients with Pfeiffer's syndrome also have thumb and great toe anomalies, which occasionally have to be treated by an experience hand or foot surgeon. All Pfeiffer's patients seen by our team are carefully evaluated by our pediatric hand surgeon and podiatry staff to ensure that proper growth is occurring in these areas.

There are several other syndromes involving craniosynostosis. Whether it is Saethre-Chotzen (a mutation in the Twist gene), Carpenters syndrome, or another rare form of early suture closure, our team carefully evaluates each patients to make sure that all their medical and developmental needs are met.

The treatment of these syndromes begins at birth. Because the midface fails to grow, Apert's patients may have problems breathing. As a result, they should be watched closely at birth for signs of apnea or desaturations. If the breathing problem is severe, early intervention is required. Our nurse practitioner/feeding specialist works closely with each child to insure that nutrition is adequate. Our staff geneticist performs a full genetic evaluation, including FGFR receptor analysis to complete the diagnosis.

The child is then evaluated carefully by our pediatric neurosurgeon for signs of hydrocephalus or increased intracranial pressure. Based on this evaluation, plans are made to begin the skull remodeling surgery. Our goal is to normalize skull shape by the patient's first birthday. This is done by Dr. Eric Stelnicki working closely with one of the pediatric neurosurgeons. Care is taken to sequentially mold the front and back of the misshapen head, while decreasing intracranial pressure and allowing room for growth. 

If a cleft palate is present, this is typically closed between 12-18 months of age. The decision to close the cleft is based on a close consultation between the Craniomaxillo facial surgeons, the team of speech therapist, the orthodontic staff, and the patient's family. The goal of this surgery is to close the hole in the roof of the mouth, while maximizing speech development and maxillary growth.

Treatment of the hands and feet begins as early as 2-3 months of age. Our team hand specialists are dedicated hand surgeons who specialize in the treatment of pediatric hand abnormalities. The type of surgery performed is based on the type of hand abnormality present in the patient. Severe deformities usually begin with a separation of the thumb so that the infant can hold objects. We also have hand therapist who will work with the child to maximize their function though out their development. Our team is one of the few in the country, which recognizes the importance of treating feet abnormalities in these patients. The syndactyly of the toes is treated by trained orthopedic and podiatric surgeons who understand the need for proper foot care and development. These are typically done in conjunction with the hand surgeries in order to decrease the total number of operations a patient with Apert's has during their lifetime. Other hand and foot abnormalities are addressed and treated by the team in an organized, staged fashion that optimizes form and function.

Speech development is carefully followed by our speech therapist. Early intervention is given as needed to get the best results. Occasionally speech surgery is required to normalize the production of sound. However, this is only utilized as a last result when conservative measures have not been successful.

Dental development is followed closely by our pedodontic and orthodontic teams. Treatment is adjusted based on the pattern of dental growth and the type orthodontic care needed to normalize tooth and gum position. Children with these syndromes frequently require a surgery to put the underdeveloped "mid-face" into a proper position. This is performed at age 5 using the newest, less invasive methods of distraction osteogenesis when possible. This technique maximizes facial position with the least amount of risk.

A careful eye exam is given at birth. Corneal exposure problems are treated immediately. Problems with eye muscle movement (strabismus) are treated by our pediatric ophthalmology specialist in order to normalize eye position and visual development. In patients with very wide set eyes (orbital hypertelorism) the position of the eyes is normalized at 4 years of age. This is done in conjunction with Dr. Stelnicki, the pediatric neurosurgeon, and the ophthalmologist in order to get the best final result under the safest conditions.
In the teen-age years, nasal and jaw deformities are again addressed by the team. Patients with these syndromes usually require orthognathic surgery to correct jaw position. This is done in conjunction with our orthodontic staff, which works closely with the patient to maximize dental growth and development. Any additional nasal surgery is also performed at this time. Recently, we have been utilizing virtual reality techniques to plan our operations at this stage. A CT scan of the patient's facial bones and skull is compared to a "normal" template. Based on this comparison, the facial bones are segmentalized and moved into their proper location. All of which significantly normalizes facial appearance.