Polydactyly and Syndactyly

Polydactyly and Syndactyly



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.


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 and 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 to external factors like exposure to toxins or womb anomalies.


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


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.


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.


There is no known prevention for these conditions.



March of Dimes Birth Defects Foundation. 1275 Mamaroneck Ave., White Plains, NY 10605. (914) 428-7100. resourcecenter@modimes.org. http://www.modimes.org.
National Institute of Child Health and Human Development. Bldg 31, Room 2A32, MSC 2425, 31 Center Drive, Bethesda, MD 20892-2425. (800) 505-2742. http://www.nichd.nih.gov/sids/sids.htm.


OMIM Home Page, Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/Omim.

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.
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.
References in periodicals archive ?
Review of literature suggests polydactyly and syndactyly as the most common deformities of the limbs.
The prognosis for isolated polydactyly and syndactyly is excellent.
MLDs were characterized with the help of a resident medical officer and by employing the standard medical databases.5,6 Digit defects like polydactyly and syndactyly were further characterized into well-described entities.7,8
In an epidemiological study in Southern Pakistan, nine major types of MLDs were witnessed, and polydactyly and syndactyly were the most common malformations.10 Polydactyly was also the most prevalent type in the present study.
The clinical spectrum of manifestations is broad, but can be summarised as craniofacial abnormalities including cleft palate and microcephaly, postaxial polydactyly and syndactyly of the toes, cardiac defects, pyloric stenosis, aganglionosis of the colon and ambiguous genitalia.
Along with it the extracardiac findings were Anencephaly01 with spina bifida- 01, cleft lip/palate-01, polydactyly and syndactyly of ring and little finger, Gastroschisis-01 with limb deformity-01, Hydrocephalus-01, craniothoracopagus-01.
Hand and finger changes are seen as trident fingers (6) in Achondroplasia but polydactyly and syndactyly in EVC syndrome.