Emanuel Syndrome

Emanuel syndrome is also known as partial Trisomy 11;22. Emanuel syndrome occurs when there is a translocation between genes 11q and 22 q.

Signs of this condition include a small head, abnormally shaped ears with tags, a long philtrum, cleft palate, dislocated hips, low muscle tone, broad nose and small chin. Boys may have undescended testicles. Hearing loss, heart complications and misshapen kidneys are common in babies with Emanuel syndrome.

The condition causes very slow physical and intellectual development. Most children with Emanuel syndrome will not walk until they are around 5 years old and some children never learn how to speak.