Zanier-Roubicek Syndrome

Zanier-Roubicek has been classified as a possible form of autosomal dominant hypohidrotic ectodermal dysplasia. Autosomal dominant (versus autosomal recessive) means the affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) Individuals with autosomal dominant disease, like Zanier-Roubicek Syndrome have a 50-50 chance of passing the mutant gene, and therefore the disorder, onto each of their children.

It is characterized by nails that are occasionally brittle, hair is missing or sparse (hypotrichosis) but those with Zanier-Roubicek Syndrome have normal eyebrows and eyelashes unlike standard autosomal dominant hypohidrotic ectodermal dysplasia where eyebrows and lashes are missing or sparse. Teeth are missing (hypodontia), or are conical shaped and those with this syndrome can experience early loss of baby teeth. Sweat glands don’t work well (hypohidrosis) and in infancy, elevated body temperatures (hyperthermia) can be quite severe. Hyperthermia is when your body produces or absorbs more heat than it can dissipate and can cause disability or death.

Those with Zanier-Roubicek Syndrome may have smooth, dry skin, and the reduced ability to produce tears. They may be of normal, or slightly reduced height, and may have underdeveloped or incompletely developed breast glands.

See hypohidrotic ectodermal dysplasia (HED)

Asai, Y. and Irvine, A. D. (2011) Ectodermal Dysplasias, in Harper’s Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition (eds A. D. Irvine, P. H. Hoeger and A. C. Yan), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444345384.ch127

With definition references from