clinical features
Last reviewed 01/2018
Characteristically the trunk is of normal length but the limbs are very short, especially proximally - rhizomelia, and broad. The vault of the skull is enlarged. Lumbar lordosis is present. Individuals with this condition often have a small face with a nose bridge that is flat. There may be brachydactyly with trident appearance of the hands.
This condition has no effect on intelligence.
There is said to be an association with shoulder weakness.