Cerebellar Ataxia And Ectodermal Dysplasia

Clinical Features

Baraitser et al. (1993) reported 2 brothers with ectodermal dysplasia involving primarily the teeth and hair who developed cerebellar ataxia in the early teens. Intelligence was normal. Baraitser et al. (1993) cited reports of this association by Rushton and Genel (1981), Geormaneanu et al. (1976), and Klingmuller and Kirchhof (1954).

Gorlin (1997) expressed the opinion that the reports cited by Baraitser et al. (1993) had 'nothing in common.' He stated that the syndrome described by Rushton and Genel (1981) represented a valid distinct entity; Klingmuller and Kirchhof (1954) were probably dealing with 4 brothers who had typical hypohidrotic ectodermal dysplasia and, apparently independently, Friedreich ataxia (229300); Geormaneanu et al. (1976) described a female who had monilethrix and a somewhat unusual face with widely spaced teeth with hypodontia and ataxia of the spinocerebellar type; and Baraitser et al. (1993) reported 2 brothers with somewhat sparse hair, oligodontia, ataxia and hyperreflexia that appeared in puberty, sunken eyes, undescended testes, and cerebellar atrophy demonstrated on CT scan.