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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...

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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.

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Polydactyly and syndactyly
From Gale Encyclopedia of Medicine, 4/6/01 by Lorraine Lica

Definition

Polydactyly and syndactyly are congenital irregularities of the hands and feet. Polydactyly is the occurrence of extra fingers or toes, and syndactyly is the webbing or fusing together of two or more fingers or toes.

Description

Polydactyly can vary from an unnoticeable rudimentary finger or toe to fully developed extra digits.

Syndactyly also exhibits a large degree of variation. Digits can be partially fused or fused along their entire length. The fusion can be simple with the digits connected only by skin, or it can be complicated with shared bones, nerves, vessels, or nails.

Polydactyly and syndactyly can occur simultaneously when extra digits are fused. This condition is known as polysyndactyly.

Causes & symptoms

Polydactyly and syndactyly are due to errors in the process of fetal development. For example, syndactyly results from the failure of the programmed cell death that normally occurs between digits. Most often these errors are due to genetic defects.

Polydactyly and syndactyly can both occur by themselves as isolated conditions or in conjunction with other symptoms as one aspect of a multi-symptom disease. There are several forms of isolated syndactyly and several forms of isolated polydactyly; each of these, where the genetics is understood, is caused by an autosomal dominant gene. This means that since the gene is autosomal (not sex-linked), males and females are equally likely to inherit the trait. This also means that since the gene is dominant, children who have only one parent with the trait have a 50% chance of inheriting it. However, people in the same family carrying the same gene can have different degrees of polydactyly or syndactyly.

Polydactyly and syndactyly are also possible outcomes of a large number of rare inherited and developmental disorders. One or both of them can be present in over 100 different disorders where they are minor features compared to other characteristics of these diseases.

For example, polydactyly is a characteristic of Meckel syndrome and Laurence-Moon-Biedl syndrome. Polydactyly may also be present in Patau's syndrome, asphyxiating thoracic dystrophy, hereditary spherocytic hemolytic anemia, Moebius syndrome, VACTERL association, and Klippel-Trenaunay syndrome.

Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome. Syndactyly may also occur with Gordon syndrome, Fraser syndrome, Greig cephalopolysyndactyly, phenylketonuria, Saethre-Chotzen syndrome, Russell-Silver syndrome, and triploidy.

In some isolated cases of polydactyly or syndactyly, it is not possible to determine the cause. Some of these cases might nevertheless be due to genetic defects; sometimes there is too little information to demonstrate a genetic cause. Some cases might be due external factors like exposure to toxins or womb anomalies.

Diagnosis

Polydactyly and syndactyly can be diagnosed by external observation, x ray, and fetal sonogram.

Treatment

Polydactyly can be corrected by surgical removal of the extra digit or partial digit. Syndactyly can also be corrected surgically, usually with the addition of a skin graft from the groin.

Prognosis

The prognosis for isolated polydactyly and syndactyly is excellent. When polydactyly or syndactyly are part of a larger condition, the prognosis depends on the condition. Many of these conditions are quite serious, and early death may be the probable outcome.

Prevention

There is no known prevention for these conditions.

Key Terms

Autosomal chromosome
One of the non-X or non-Y chromosomes.
Congenital
A condition present at birth.
Digit
A finger or a toe.
Dominant trait
A genetic trait that will always express itself when present as one of a pair of genes (as opposed to a recessive trait where two copies of the gene are necessary to give the individual the trait).
Gene
A portion of a DNA molecule that either codes for a protein or RNA molecule or has a regulatory function.
Triploidy
The condition where an individual has three entire sets of chromosomes instead of the usual two.
Trisomy
An abnormal condition where three copies of one chromosome are present in the cells of an individual's body instead of two, the normal number.

Further Reading

For Your Information

    Books

  • Jones, Kenneth Lyons. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia: W.B. Saunders, 1997.
  • Rimoin, David L, J. Michael Connor, and Reed E. Pyeritz, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 3rd ed. New York: Churchill Livingstone, 1997.

    Organizations

  • March of Dimes Birth Defects Foundation. 1275 Mamaroneck Avenue, White Plains, NY 10605. (888) 663-4637. http://www.modimes.org/
  • NIH/National Institute of Child Health and Human Development. 9000 Rockville Pike, Building 31, Rm 2A32, MSC 2425, Bethesda MD 20892. (301) 496-5133. Fax: (301) 496-7101. http://www.nih.gov/nichd/

    Other

  • OMIM Homepage, Online Mendelian Inheritance in Man. Searchable Database. http://www3.ncbi.nlm.nih.gov/Omim/ (19 June 1998).
  • Mih, Alex D. and Gary Schnitz. Congenital Deformities of the Hand. 1997. http://www.indianahandcenter.com/htcong.html#polydactyly (19 June 1998).

Gale Encyclopedia of Medicine. Gale Research, 1999.

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