What is Apert Syndrome?
The following was developed from information contained in an article entitled
Clinical Assessment and Multispecialty Management of Apert Syndrome,
written by Lawrence C. Kaplan, MD, and published in Clinics in Plastic
Surgery-Vol. 18, No. 2, April 1991.
Major Features of Apert Syndrome
- Prematurely fused cranial sutures
- A retruded midface
- Fused fingers
- Fused toes
Possible Related Features of Apert Syndrome
These have been observed in some cases of Apert syndrome, although whether they
were caused by Apert syndrome is uncertain.
- Various heart defects
- Pulmonary Atresia
- Patent Ductus Arteriosus (PDA)
- Tracheoesophageal Fistula
- Pyloric stenosis
- Polycystic kidneys
- Bicornate uterus
- Ear infections
- Sleep Apnea
- Severe acne
- Increased incidence of eye injuries
Apert Syndrome is a genetic defect and falls under the broad classification of
craniofacial/limb anomalies. It can be inherited from a parent who has Apert, or
may be a fresh mutation. It occurs in approximately 1 per 160,000 to 200,000
live births. Apert syndrome is primarily characterized by specific malformations
of the skull, midface, hands, and feet. The skull is prematurely fused and
unable to grow normally; the midface (that area of the face from the middle of
the eye socket to the upper jaw) appears retruded or sunken; and the fingers and
toes are fused together in varying degrees. Apert syndrome is named for the
French physician who first described it, E. Apert, in 1906.
In a normal child, the skull is made up of several "plates" which
remain loosely connected to one another, gradually growing together to form the
adult skull. The Apert child's skull, by contrast, has a premature fusion of
these plates, restricting brain growth, and causing increased pressure in the
brain as it grows. This is known as craniosynostosis. Early surgery
relieves the pressures by allowing the plates to be detached from one another.
During this early surgery some "cranial remodeling" may be done to
give the child a more normal appearance.
The "retrusion" or hypoplasia of the midface is what could
be described as a concave or dished in profile. As the skull grows, the upper
and lower thirds of the face tend to grow at normal rates, but the middle third
of the face grows slower, resulting in a more pronounced retrusion over time. A
surgical procedure known as the LeFort III is used to correct this condition.
The procedure is usually done after substantial growth is complete
(preadolescence) and may be repeated as necessary. The LeFort procedure involves
detaching the facial bones from mid eye to upper jaw and spacing this area out
with bone grafts so that a proper alignment is made. In the last few
years, some surgeons have come to prefer the Rigid External Distraction (RED)
system or internally placed distractors, instead of or in conjunction with,
traditional craniofacial surgery.
The fusion of the fingers and toes along with the craniofacial problems
mentioned above is what really separates Apert from other similar syndromes.
This condition is called syndactyly. It always involves fusion of the
soft tissues of the first, middle, and ring fingers, and often there is fusion
of the bones themselves. Joint mobility is usually nonexistent past the first
joint. The thumb may be fused into the hand, or may be free. Surgery is used to
separate the fingers to obtain the highest degree of functionality, and may or
may not ultimately result in five digits on each hand. It varies according to
the degree of malformation. The feet and toes are affected similarly, but
surgery is usually only recommended in cases where the ability to walk would be
Ideally, treatment of Apert begins at birth with the proper diagnosis,
identification of the child's individual needs, and the proper facilities to
administer what is needed. A multidisciplinary approach is used by physicians in
the best arrangements. A craniofacial anomalies team may consist of a
craniofacial surgeon, neurosurgeon, ENT, audiologist, speech pathologist, oral
surgeon, psychologist, ophthalmologist, and an orthodontist. The team approach is
used by these physicians to determine the best collaborative corrective plan for
the deficiencies of the child.
Apert syndrome is a result of genetic mutation. When you have Apert syndrome,
you have a 1 in 2 (50%) chance of passing this condition to your child. This is
because each of us gets 1/2 of our genetic makeup from each parent. However,
Apert is not a recessive trait, which means that the UNaffected child of a
parent with Apert syndrome is no more likely to have a child with Apert than any
other person; also, if you have a child with Apert and you do NOT have Apert,
YOU are no more likely to have another child with Apert than anyone else in the
population. Studies have shown that Apert occurs more often in children of older
Recently studies were conducted at Oxford University and they managed to
identify the actual genetic change which occurs in Apert. The following is a
quote from a letter sent to the test families by Oxford.
"A total of 86 children and adults affected with Apert syndrome have
been seen. From the blood samples which have been donated for research, we have
identified the genetic change that causes the condition. The change is in a gene
on chromosome number 10 called 'Fibroblast Growth Factor Receptor 2'
(FGFR2 for short). We all have two copies of this gene (one from mother, one
from father), which is composed of a string of about 2000 of the chemical
building blocks that make up the genetic material called DNA. When Apert
syndrome occurs, just one particular building block in one of these two gene
copies has been exchanged for another. The other gene copy is entirely normal.
This one tiny change in the FGFR2 gene results in the physical features of Apert