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.
Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page