» What are the Main Features of the Syndrome?

1. Growth
At birth babies with the syndrome are usually small although occasionally they may be of normal weight. Although children with the syndrome are small they will grow at their own rate and go through puberty at the usual age. Information from a large study in the USA suggests that individuals with the syndrome will reach an adult height of between four and five feet. Copies of the growth charts based on this study are available from the Foundation office. These charts have been compiled using data from individuals with both classical and mild forms of the syndrome but in the future we hope to have separate charts that will give a more accurate guide to the child’s future growth and height.

2. Development
Children and young adults with the syndrome are usually developmentally delayed (the terms intellectual disability and learning disability may also be used to describe this delay) but there is a wide variation in the degree that they are affected. Almost all children with the syndrome learn to walk. Those with the classical form may not walk until they are five years old, while those with the mild form will walk before they are two years old. Generally speaking, the children are very good at using their hands and even those who have missing fingers and hands usually learn to manipulate objects and pick things up.

Skills such as washing and dressing require fine motor control and planning, and many children and adults with CdLS will need help with these daily tasks. The development of self-help skills may be delayed among individuals with CdLS but some do achieve a degree of independence in this area.

The most severely affected area of development is speech and this is often affected by hearing impairments. Many children with the syndrome will never learn to speak but with the right help and encouragement they should acquire a number of words. Teaching non-verbal communication skills to support verbal language development such as sign language or picture exchange systems is also important. Children who have a mild form of the syndrome can learn to talk fluently, even though they may be five or six years old before they start talking.

3. Limb Abnormalities
For their size all the children and adults have relatively small hands and feet. Occasionally children with the classical form of the syndrome have missing fingers, hands or forearms.

4. Facial Features
Children with the syndrome all look very alike in the same way that brothers and sisters look very alike. The facial features change as the children grow and the pictures on these and the preceding pages show children with the syndrome at different ages.

The most distinctive of the facial features are the eyebrows, nose and mouth. The eyebrows are very neat and look like they have been pencilled onto the face. They often meet in the middle above the nose. The eyelashes are usually long and curled. The nose is usually small with a depressed bridge and with the nostrils pointing forward. The top lip is long and smooth and the lips are usually thin and the corners of the mouth turned down. The chin is usually small.