| 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 |
 | |
| 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. |
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.
Additional symptoms that appear in at least 80% of affected individuals include decreased muscle mass, dolichocephaly, a high and narrow palate, malar flattening, and a shuffling gait.
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. The suspected mode of inheritance is autosomal recessive.