Although most forms of craniosynostosis are sporadic and have no affect on other parts of the developing infant, there are some rare forms of craniosynostosis that are syndromic. These patients have a very characteristic appearance. The craniosynostosis usually involves multiple sutures and, in every case, more than just the shape of the skull is effected.

Apert syndrome is a condition involving abnormal growth of the skull and the face. Children with Apert's have bulging eyes that are usually wide-set and tilted downward at the sides. They usually have problems with teeth alignment due to the underdevelopment of the upper jaw. Some have cleft palate. Children with Apert syndrome have webbed fingers and toes.

These patients should always be treated by a multidisciplinary craniofacial team because their syndrome involves multiple regions of the body. Dr. Alan Shanske (Pediatrics) is a Geneticist and he serves as the Medical Director of the Center for Craniofacial Disorders at the Children's Hospital at Montefiore. He can be reached at the Center's general number: (718) 741-2323.

James T. Goodrich, M.D., PhD is the Director of Pediatric Neurosurgery. He is internationally recognized pediatric neurosurgeon. His office telephone number is (718) 920-4197. You can also visit his website by clicking here.

Ira Richmond Abbott, M.D. is an internationally recognized leader in Pediatric Neurosurgery. He recently joined the faculty at the Children's Hospital at Montefiore and we are fortunate to have his expertise available to us at The Center for Craniofacial Disorders. Read aqbout him here. He can be reached at (718) 920-7400.

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