Viljoen-Kallis-Voges syndrome

Viljoen Kallis Voges syndrome, also known as microcephaly-brachydactyly-kyphoscoliosis syndrome, is a very rare genetic disorder which is characterized by severe intellectual disabilities, microcephaly, low height, brachydactyly type D, flat occiput, down-slanting palpebral fissures, low-set prominent ears, a broad nose, and kyphoscoliosis.[2][3]

Viljoen-Kallis-Voges syndrome
Other names	Microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability, microcephaly brachydactyly kyphoscoliosis[1]
Specialty	Medical genetics
Complications	Intellectual disabilities, learning disabilities
Usual onset	Birth
Duration	Life-long
Causes	Genetic mutation
Prevention	none
Prognosis	Good
Frequency	Very rare, only 3 cases have been reported in medical literature.

This disorder was first discovered in the summer of 1991, by D L Viljoen et al., they described three sisters all over the age of 60 with all of the symptoms described above which were similar to those in Rubenstein-Taybi syndrome.[4] The suspected mode of inheritance is autosomal recessive.[5]