Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome

Reference work entry

EEC syndrome is an ectodermal dysplasia syndrome associated with ectrodactyly and cleft lip/palate.

Genetics/Basic Defects

  1. 1.
    Inheritance (Akahoshi et al. 2003; Barrow et al. 2002; Clements et al. 2010)
    1. a.
      Familial cases (50%)
      1. i.

        Autosomal dominant inheritance

      2. ii.

        Variable clinical expression and incomplete penetrance (93–98%)

    2. b.

      Sporadic cases (50%): more severe phenotype than the familial cases

  2. 2.
    At least three distinctive EEC loci identified
    1. a.

      EEC1 (7q11.2-q21.3)

    2. b.

      EEC2 (chromosome 19 pericentromeric region)

    3. c.

      EEC3 (3q27)

  3. 3.
    Molecular basis of EEC
    1. a.

      Causative mutations for EEC syndrome have only been identified in p63 with identification of heterozygous mutations in the DNA-binding domain of the p63 gene at 3q27

    2. b.
      The p63 protein
      1. i.

        A member of the p53 family

      2. ii.

        Implicated in apoptosis rather than tumor suppression. Increased susceptibility for cancer development has not been shown in patients with EEC syndrome.

    3. c.

      Pathogenic mutations in the TP63...


Renal Agenesis Ectodermal Dysplasia Central Diabetes Insipidus Choanal Atresia Orofacial Cleft 
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