Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Syndactyly: frequency of specific types.

E E Castilla, J E Paz, I M Orioli-Parreiras

    American Journal of Medical Genetics
    |January 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Latin American Collaborative Study of Congenital Malformations (ECLAMC): a model for health collaborative studies.

    Public health genomics·2014
    Same author

    Hormone therapy during pregnancy and isolated hypospadias: an international case-control study.

    The International journal of risk & safety in medicine·2013
    Same author

    Birth defects monitoring in underdeveloped countries: an example from Uruguay.

    The International journal of risk & safety in medicine·2013
    Same author

    Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries.

    Caries research·2013
    Same author

    Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

    Journal of perinatology : official journal of the California Perinatal Association·2012
    Same author

    Association of AXIN2 with non-syndromic oral clefts in multiple populations.

    Journal of dental research·2012
    Same journal

    Abstracts for the Xth World Congress of Psychiatric Genetics. Brussels, Belgium, 9-13 October 2002.

    American journal of medical genetics·2003
    Same journal

    Defects of blastogenesis.

    American journal of medical genetics·2002
    Same journal

    Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

    American journal of medical genetics·2002
    Same journal

    Limb anomalies: Developmental and evolutionary aspects.

    American journal of medical genetics·2002
    Same journal

    Molecular etiology of gut malformations and diseases.

    American journal of medical genetics·2002
    Same journal

    Status of the human malformation map: 2002.

    American journal of medical genetics·2002
    See all related articles

    Syndactyly, a congenital limb anomaly, affects approximately 3 in 10,000 newborns. Genetic factors likely play a larger role in syndactyly than previously recognized, influencing its inheritance patterns.

    Area of Science:

    • Medical Genetics
    • Clinical Genetics
    • Pediatric Genetics

    Background:

    • Syndactyly is a congenital condition characterized by the fusion of digits.
    • Previous studies have described various types and genetic categories of syndactyly.
    • Understanding the prevalence and genetic basis of syndactyly is crucial for diagnosis and genetic counseling.

    Purpose of the Study:

    • To determine the incidence of syndactyly in a newborn population.
    • To identify the most common types of syndactyly and their associated features.
    • To evaluate the contribution of genetic factors to syndactyly.

    Main Methods:

    • Prospective study of 599,109 consecutive newborn infants.
    • Diagnosis of syndactyly and classification of its types.

    Related Experiment Videos

  • Analysis of syndactyly cases with and without other congenital anomalies.
  • Review of family history for syndactyly in affected individuals.

    • Main Results:

    • Syndactyly was diagnosed in 174 infants (3/10,000), with 133 isolated cases and 41 associated with other anomalies.
    • The most frequent type was syndactyly of the second and third toes (70 cases), predominantly in males of white non-Latin-European ancestry.
    • 66% of cases fit into established genetic categories, and 6% had affected first-degree relatives.

    Conclusions:

    • Genetic forms of syndactyly appear to be more common than previously thought.
    • The findings support a significant genetic contribution to syndactyly, warranting further investigation into specific genetic etiologies.
    • This study highlights the importance of considering genetic counseling for families with syndactyly.