Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?

J Med Genet. 1998 Feb;35(2):157-8. doi: 10.1136/jmg.35.2.157.


We present two unrelated children, a male and a female, with signs of ectodermal dysplasia, mental retardation, agenesis/ dysgenesis of the corpus callosum, and primary hypothyroidism. Reports of ectodermal dysplasia with CNS malformations or hypothyroidism or both are rare. We suggest that the condition we describe is a distinct entity within the large group of ectodermal dysplasia syndromes and that it has a variable clinical spectrum. As both males and females are affected and in a few reports some parents show minimal signs, the inheritance is likely to be autosomal dominant.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum*
  • Cephalometry
  • Craniofacial Abnormalities / genetics
  • Echocardiography
  • Ectodermal Dysplasia / genetics*
  • Ectodermal Dysplasia / physiopathology
  • Failure to Thrive / genetics
  • Female
  • Gene Expression
  • Hair / abnormalities
  • Humans
  • Hypothyroidism / genetics*
  • Hypothyroidism / physiopathology
  • Infant
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Pregnancy
  • Pregnancy Complications
  • Syndactyly / genetics
  • Thyrotropin / analysis


  • Thyrotropin