Viljoen Kallis Voges syndrome
Alternate names
Microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability; Microcephaly brachydactyly kyphoscoliosis
Definition
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.
NIH genetic and rare disease info
Viljoen Kallis Voges syndrome is a rare disease.
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