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The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
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Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
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Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

Monika Koul1, Rahul Dwivedi2, Vinod Upadhyay3

  • 1Professor and H.O.D., Department of Paedodontics and Preventive Dentistry, Career Post Graduate Institute of Dental Sciences and Hospital, Lucknow, India.

Journal of Oral Biology and Craniofacial Research
|March 5, 2015
PubMed
Summary

Ectrodactyly-ectodermal dysplasia-clefting syndrome is a rare genetic disorder. It is characterized by limb malformations, ectodermal abnormalities, and facial clefts, inherited in an autosomal dominant pattern.

Keywords:
EEC syndromeEctodermal dysplasiaEctrodactylySHFM

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Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Science

Background:

  • Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is a rare genetic disorder.
  • It is characterized by a triad of ectrodactyly, ectodermal dysplasia, and facial clefts.
  • EEC syndrome is inherited in an autosomal dominant pattern.

Purpose of the Study:

  • To describe the key features of Ectrodactyly-ectodermal dysplasia-clefting syndrome.
  • To highlight its genetic basis and inheritance pattern.

Main Methods:

  • Literature review of existing case studies and genetic research on EEC syndrome.
  • Clinical description based on established diagnostic criteria.

Main Results:

  • The syndrome presents with a distinct combination of limb malformations (ectrodactyly), abnormalities in skin, hair, nails, and teeth (ectodermal dysplasia), and cleft lip/palate.
  • Genetic analysis confirms an autosomal dominant inheritance pattern.

Conclusions:

  • Ectrodactyly-ectodermal dysplasia-clefting syndrome is a rare but distinct genetic disorder.
  • Early diagnosis and genetic counseling are crucial for affected families.