von Hippel lindau syndrome
The term “phakomatoses” (Greek: lens, mole, birthmark), which is still used, should be replaced by “neurocutaneous syndrome,” as the term phakomatoses were only applied to neurofibromatosis and tuberous sclerosis (TS) in early medicine. The term neurocutaneous syndrome covers all disorders involving the CNS whose most prominent feature is skin lesions.
Ataxia-telangiectasia is inherited in an autosomal recessive pattern, which means both copies of the ATM gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition.