& the Enigma of Chromosome No.10
Born With Apert's
His Big Sister
and Head 04
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Craniofacial Surgery: Tennessee
Craniofacial Center Erlanger
Erlanger on Apert:
Nat'l Org. for Rare Disorders:
& Related Conditions
Craniofacial Work at Columbia:
Apert Syndrome: Faces-Cranio
Clinical Variability in Patients:
A CONGENITAL DEFECT FOR ONE IN 200,000 ... BUT
WHAT IS APERT SYNDROME?
From data in an article entitled "Clinical
Assessment and Multispecialty Management of Apert Syndrome,"
Lawrence C. Kaplan, MD, published in Clinics in Plastic Surgery
- Vol. 18, No. 2, April 1991.
Features of Apert Syndrome
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 (some
sources claim as "common" as one in 50,000 to 65,000) 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.
The fusion of the fingers and toes along with the craniofacial
problems mentioned above is what really separates Apert from other
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 nonexistant 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 impared.
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 physicans in the best arrangements. A craniofacial anomalies
team may consist of a craniofacial surgeon, neurosurgeon, ENT, audiologist,
speech pathologist, oral surgeon, psychologist, opthalmoligist,
and an orthodontist.
The team approach is used by these physicians to determine the
best collaborative corrective plan for the deficiences of the child.