Name = Apert syndrome
DiseasesDB = 33968
ICD10 = ICD10|Q|87|0|q|80
ICD9 = ICD9|755.55
OMIM = 101200
MedlinePlus = 001581
eMedicineSubj = ped
eMedicineTopic = 122
MeshID = D000168
Apert syndrome, virtually synonymous with acrocephalosyndactyly, is a
congenital disorder. It is classified as a branchial arch syndromeand specifically affects the first branchial (or pharyngeal) arch, which is the precursor of the maxillaand mandible. Since the branchial arches are important developmental features in a growing fetus, disturbances in its development create lasting and widespread effects.
Eugène Apert, a French physician, first described nine people with a very similar disorder. Since he was the first to do so, his name is associated with the syndrome. [WhoNamedIt|synd|194]
Breaking down the name of this disorder, “acro” means “peak” in Greek and refers to the “peaked” heads of some people with this syndrome. Syndactyly refers to the webbing of fingers and toes.
What occurs in
embryologyis that hands and feet are supposed to have some selective cells die (known as selective cell death or apoptosis) to separate the fingers and toes. In the case of acrocephalosyndactyly, selective cell death does not occur, and fusion of skin, and sometimes bone, between the fingers and toes occurs. As in Crouzon syndromeand Pfeiffer syndrome, the bones of the skull are affected as well. Craniosynostosisresults from the infant’s skull and facial bones fusing early while in development, disrupting normal bone growth. Fusion of different sutures leads to different patterns of growth of the skull. Examples include: trigonocephaly(fusion of the metopic suture), brachycephaly(fusion of the coronal suture), dolichocephaly(fusion of the sagittal suture), plagiocephaly(fusion of coronal and lambdoidal sutures unilaterally), oxycephaly (or turricephaly- fusion of coronal and lambdoid sutures). Apert syndrome occurs in approximately 1 per 160,000 to 1 per 200,000 live births. [Cite journal
issn = 00941298
volume = 18
issue = 2
pages = 217–25
last = Kaplan
first = L C
title = Clinical assessment and multispecialty management of Apert syndrome
journal = Clinics in plastic surgery
date = 1991-04
pmid = 2065483]
There is some support that acrocephalosyndactyly occurs in an
autosomal dominantmode. Evidence for this is that males and females are affected equally. Nonetheless, almost all cases are sporadic, signifying that most are attributable to fresh mutations or an environmental insult to the genome. Offspring of a parent with Apert syndrome stand a 50% chance of inheriting the condition. In 1995, A.O.M Wilkie, along with other researchers, published a paper showing evidence that acrocephalosyndactyly is caused by a defect in a genecalled fibroblast growth factor receptor2, on chromosome 10. [Cite journal
issn = 10614036
volume = 9
issue = 2
pages = 165–72
last = Wilkie
first = A O
coauthors = S F Slaney, M Oldridge, M D Poole, G J Ashworth, A D Hockley, R D Hayward, D J David, L J Pulleyn, P Rutland
title = Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
journal = Nature genetics
date = 1995-02
pmid = 7719344
doi = 10.1038/ng0295-165] There is also some evidence that the incidence of Apert syndrome increases with the age of the father. This stands in stark contrast to
Down Syndrome, where the incidence increases with the age of the mother. It is speculated that older fathers are more likely to have mutations in the chromosomes of their sperm.
The cranial malformations are the most apparent effects of acrocephalosyndactyly. Cranial synostosis occurs, as explained above, with Brachiocephaly being the common pattern of growth. Additionally, a common characteristic is a high, prominent forehead and a flat posterior skull. Due to the premature closing of sutures of the skull, increased cranial pressure develops which sometimes leads to mental deficiency. Nonetheless, this is not always the case since some people with acrocephalosyndactyly possess normal intelligence. Furthermore, a flat or concave face may develop because of a deficient growth in the mid-facial bones, leading to a conditir prognathism. Other features of acrocephalosyndactyly may be shallow bony orbits and broadly spaced eyes. Low-set ears is also a typical characteristic, as is with all of these disorders that are called
branchial arch syndromes. The reason for this is that in fetal life all ears are much lower than what we are accustomed to seeing. During normal development, the ears "travel" upward on the head but, in these cases, the ears do not follow this normal pattern of development since these syndromes have the greatest effects on the head. The major attribute of this syndrome is syndactyly of the hands and feet. Commonly there is fusion of fingers or toes with usually an equal amount on both sides. It is usual for the middle 3 fingers to be fused together. This appearance is the characteristic for which acrocephalosyndactyly is named. The thumb and big toe may be broad and malformed. This disorder is progressive with age as the joints continue to appear present but are immovable.
Surgery is needed to prevent the closing of sutures in the skull from damaging brain development. Combined orthodontic and
orthognathic surgerycan help to relieve some of the facial deformities, such as the flat or concave face. In particular, the LeFort III, a surgical procedure, can be used to detach the midface from the rest of the skull to reposition it appropriately. Additionally, aggressive surgery is needed to separate as many fingers and toes as possible in life.
dentists, this disorder is very important to understand since most of the physical abnormalities are presented in the head, and particularly the oral cavity. Common relevant features of acrocephalosyndactyly are a high-arched palate, pseudomandibular prognathism(appearing as mandibular prognathism), a short width of the palate, and crowding of the teeth.
Hearing loss with craniofacial syndromes
* [http://www.apert.org/apert.htm Information from Teeter's Page at www.apert.org]
* [http://craniofacial.seattlechildrens.org/conditions/aperts.asp Apert Syndrome information] from Seattle Children's Hospital Craniofacial Center
* [http://www.cleftadvocate.org cleftAdvocate] - Non-profit support organization for all craniofacial conditions; on-line and in-person family support, insurance and advocacy assistance, and more.
* [http://www.faces-cranio.org/Disord/Apert.htm The National Craniofacial Association]
* [http://www.familyvillage.wisc.edu/lib_aprt.htm A resource for information and support]
* [http://www.medterms.com/script/main/art.asp?articlekey=6574 Short explanation]
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Look at other dictionaries:
Apert syndrome — The best known type of acrocephalosyndactyly is Apert syndrome which is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. Different mutations in FGFR2 are responsible for two other genetic diseases,… … Medical dictionary
Apert syndrome — a hereditary disorder characterized by craniosynostosis, underdevelopment of the midfacial tissues resulting in a sunken facial appearance, and syndactyly (fusion) of 2–5 digits (‘mitten glove’). Variable mental retardation and cleft palate… … The new mediacal dictionary
Apert syndrome acrocephalosyndactyly — An inherited disorder causing abnormalities of the skull, face and hands and feet. There is premature closure of some of the sutures of the skull (craniosynostosis) resulting in an abnormally shaped head (which is unusually tall but short from… … Medical dictionary
Apert-Syndrom — Klassifikation nach ICD 10 Q87.0 Angeborene Fehlbildungssyndrome mit vorwiegender Beteiligung des Gesichtes Akrozephalosyndaktylie Syndrome (Apert) … Deutsch Wikipedia
Syndrome, Apert (acrocephalosyndactyly) — An inherited disorder with abnormalities of the skull and face and the hands and feet. There is premature closure of the sutures of the skull (craniosynostosis). This results in an abnormal head shape, which is unusually tall but short from front … Medical dictionary
Syndrome de rubinstein-taybi — Autre nom Syndrome des gros pouces et des gros orteils Référence MIM … Wikipédia en Français
Syndrome de Rubinstein-Taybi — Référence MIM 180849 Transmission Dominante Chromosome 16p13.3 22q13 Gène CREBBP EP300 Empreinte parentale … Wikipédia en Français
Syndrome d'Apert — La maladie d’Apert est une craniosynostose en rapport avec une mutation du gène FGFR2. Cette mutation du gène FGFR2 est responsable d’autres craniosynostose regroupées sous le nom de craniosynostose FGFR dépendante. Les sutures du crâne qui… … Wikipédia en Français
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Apert — Eugène, French pediatrician, 1868–1940. See A. syndrome … Medical dictionary