Microcephaly-brachydactyly-kyphoscoliosis syndrome

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.

Also known as: Viljoen-Kallis-Voges syndrome, Viljoen Kallis Voges syndrome, microcephaly brachydactyly kyphoscoliosis, microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability

1 clinical trial for this condition and its sub-types, 0 tagged with Microcephaly-brachydactyly-kyphoscoliosis syndrome itself.