Find information on thousands of medical conditions and prescription drugs.

Apert syndrome

Apert Syndrome, virtually synonymous with Acrocephalosyndactyly, is a branchial arch syndrome, characterized by a number of clinical features, resulting from a developmental anomaly. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in its development create lasting and widespread effects. more...

Home
Diseases
A
Aagenaes syndrome
Aarskog Ose Pande syndrome
Aarskog syndrome
Aase Smith syndrome
Aase syndrome
ABCD syndrome
Abdallat Davis Farrage...
Abdominal aortic aneurysm
Abdominal cystic...
Abdominal defects
Ablutophobia
Absence of Gluteal muscle
Acalvaria
Acanthocheilonemiasis
Acanthocytosis
Acarophobia
Acatalasemia
Accessory pancreas
Achalasia
Achard syndrome
Achard-Thiers syndrome
Acheiropodia
Achondrogenesis
Achondrogenesis type 1A
Achondrogenesis type 1B
Achondroplasia
Achondroplastic dwarfism
Achromatopsia
Acid maltase deficiency
Ackerman syndrome
Acne
Acne rosacea
Acoustic neuroma
Acquired ichthyosis
Acquired syphilis
Acrofacial dysostosis,...
Acromegaly
Acrophobia
Acrospiroma
Actinomycosis
Activated protein C...
Acute febrile...
Acute intermittent porphyria
Acute lymphoblastic leukemia
Acute lymphocytic leukemia
Acute mountain sickness
Acute myelocytic leukemia
Acute myelogenous leukemia
Acute necrotizing...
Acute promyelocytic leukemia
Acute renal failure
Acute respiratory...
Acute tubular necrosis
Adams Nance syndrome
Adams-Oliver syndrome
Addison's disease
Adducted thumb syndrome...
Adenoid cystic carcinoma
Adenoma
Adenomyosis
Adenosine deaminase...
Adenosine monophosphate...
Adie syndrome
Adrenal incidentaloma
Adrenal insufficiency
Adrenocortical carcinoma
Adrenogenital syndrome
Adrenoleukodystrophy
Aerophobia
Agoraphobia
Agrizoophobia
Agyrophobia
Aicardi syndrome
Aichmophobia
AIDS
AIDS Dementia Complex
Ainhum
Albinism
Albright's hereditary...
Albuminurophobia
Alcaptonuria
Alcohol fetopathy
Alcoholic hepatitis
Alcoholic liver cirrhosis
Alektorophobia
Alexander disease
Alien hand syndrome
Alkaptonuria
Alliumphobia
Alopecia
Alopecia areata
Alopecia totalis
Alopecia universalis
Alpers disease
Alpha 1-antitrypsin...
Alpha-mannosidosis
Alport syndrome
Alternating hemiplegia
Alzheimer's disease
Amaurosis
Amblyopia
Ambras syndrome
Amelogenesis imperfecta
Amenorrhea
American trypanosomiasis
Amoebiasis
Amyloidosis
Amyotrophic lateral...
Anaphylaxis
Androgen insensitivity...
Anemia
Anemia, Diamond-Blackfan
Anemia, Pernicious
Anemia, Sideroblastic
Anemophobia
Anencephaly
Aneurysm
Aneurysm
Aneurysm of sinus of...
Angelman syndrome
Anguillulosis
Aniridia
Anisakiasis
Ankylosing spondylitis
Ankylostomiasis
Annular pancreas
Anorchidism
Anorexia nervosa
Anosmia
Anotia
Anthophobia
Anthrax disease
Antiphospholipid syndrome
Antisocial personality...
Antithrombin deficiency,...
Anton's syndrome
Aortic aneurysm
Aortic coarctation
Aortic dissection
Aortic valve stenosis
Apert syndrome
Aphthous stomatitis
Apiphobia
Aplastic anemia
Appendicitis
Apraxia
Arachnoiditis
Argininosuccinate...
Argininosuccinic aciduria
Argyria
Arnold-Chiari malformation
Arrhythmogenic right...
Arteriovenous malformation
Arteritis
Arthritis
Arthritis, Juvenile
Arthrogryposis
Arthrogryposis multiplex...
Asbestosis
Ascariasis
Aseptic meningitis
Asherman's syndrome
Aspartylglycosaminuria
Aspergillosis
Asphyxia neonatorum
Asthenia
Asthenia
Asthenophobia
Asthma
Astrocytoma
Ataxia telangiectasia
Atelectasis
Atelosteogenesis, type II
Atherosclerosis
Athetosis
Atopic Dermatitis
Atrial septal defect
Atrioventricular septal...
Atrophy
Attention Deficit...
Autoimmune hepatitis
Autoimmune...
Automysophobia
Autonomic dysfunction
Familial Alzheimer disease
Senescence
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Medicines

Overview

In 1906, Eugène Apert, a French physician, first described nine people with a similar disorder. Since he was the first to do so, his name is associated with the syndrome.

Breaking down the name of this disorder, “acro” means “peak” in Greek and refers to the “peaked” hands of some people with this syndrome. Syndactyly refers to the webbing of fingers and toes.

What occurs in embryology is 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 occur.

As in Crouzon Syndrome, the bones of the skull are affected as well. Craniosynostosis results from the infant’s skull and facial bones fusing early while in development, disrupting normal bone growth. Fusion of different sutures lead 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), oxycephaly (fusion of most sutures).

Causes

There is some support that acrocephalosyndactyly occurs in an autosomal dominant mode, but the basic defect is still unknown. 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 genetic code. In 1995, A.O.M Wilkie, along with other researchers, published a paper showing evidence of a relationship between acrocephalosyndactyly and a gene, called Fibroblast Growth Factor Receptor 2, on chromosome 10.

There is also some evidence that the age of the father is related to this syndrome. This stands in stark contrast to Down Syndrome, where the age of the mother is positively correlated with the risk of having a child with the syndrome. It is speculated that older fathers are more likely to have mutations in the chromosomes of their sperm, but a correlation to this disorder has not been established through scientific research.

Symptoms

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 of these people possess normal intelligence. Furthermore, a flat or concave face may develop because of a deficient growth in the mid-facial bones, leading to a condition known as pseudomandibular prognathism. Other features of acrocephalosyndactyly may be shallow bony orbits and broadly spaced eyes.

Read more at Wikipedia.org


[List your site here Free!]


Nancy Burson: Grey Art Gallery - New York - Brief Article
From ArtForum, 5/1/02 by Kirby Gookin

Nancy Burson has devoted the past two decades to the human face, not so much to learn from it as to learn what it cannot tell us. This midcareer survey, "Seeing and Believing: The Art of Nancy Burson" (co-organized with the Blaffer Gallery, the Art Museum of the University of Houston), includes more than one hundred photographs as well as drawings and interactive computer stations (at which you can see various modified versions of yourself-- merged with another face, as a different race or age, or with various physical anomalies). The show opened with a selection of the early-'80s composite photographs for which she is best known. The technique was developed in the late 1870s by Francis Galton, the founder of eugenics, who superimposed multiple portraits of individuals representing what he deemed a "natural kind" (the criminal, for instance) onto a single photographic plate in order to reveal what the "ideal" of that type would look like. Burson's adaptation of Galton's method points up the absurdity of seeki ng to illustrate a "kind" through chosen faces: In Warhead 1, 1982, she digitally superimposed images of Reagan, Brezhnev, Thatcher, Mitterand, and Deng, weighting the intensity of each likeness in proportion to the size of each country's nuclear arsenal. In the two-image work First and Second Beauty Composites, 1982, she layered images of movie starlets to create ideal portraits of beauty that instead look like the disastrous results of Hollywood inbreeding. These composites put a face on contemporary warfare and physical perfection, respectively, but they are primarily ironic projects that lampoon the very notion of idealized types.

In a dramatic shift away from irony, Burson's recent works are more earnest explorations into the biases and misunderstandings we as a society bear toward those who don't fit into our normative standards. In the "Special Faces" series, Burson created sumptuous, richly toned portraits of children and adults born with such craniofacial conditions as progenia (accelerated aging) and Apert syndrome (bone malformation). Burson not only treats her subjects with the dignity usually reserved for those whose appearance adheres to our criteria for beauty but also shows them alongside family members and friends, whose expressions of joy and affection are a powerful rebuke to our own initial shock, fear, and fascination.

In her latest, ongoing series, "Healing," Burson continues her investigation of what lies beyond appearance, focusing on the gestures of faith healers working on patients. In some of these pictures spears of colored light emanate from the healer's hands or appear near the subject's body; Burson insists the photographs are nor manipulated, that these effects are records of energy fields. Videos also document the sessions (one of these works, Touch Without Touching, 2002, debuted at Southfirst, in Brooklyn, concurrently with this survey). Again we are confronted with our own biases--in this case, those that prioritize science and positivism over faith. In her expansive oeuvre, Burson defies the notion of truth as visible and verifiable. As witnesses, we discover that we can learn plenty about character from a person's face--that is, plenty about the character of the viewer.

COPYRIGHT 2002 Artforum International Magazine, Inc.
COPYRIGHT 2002 Gale Group

Return to Apert syndrome
Home Contact Resources Exchange Links ebay