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CAGSSS stands for a syndrome presenting with cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss and skeletal dysplasia. It is a very rare disorder for which so [...]

Smith-Lemli-Opitz syndrome is a well-described autosomal recessive disorder associated with a range of congenital malformations including among others postaxial polydactyly and 2-3 toe cutaneous [...]

Dowling-Degos disease is a skin pigmentation disorder characterized by small dark brown, partly hyperkeratotic spots and papules located in certain areas of the body. It is a genetically very [...]