CdLS is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognized at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made. The exact incidence is unclear, but it is thought to be between 1:10,000 and 1:30,000 live births.

How is Cornelia de Lange Syndrome recognized?

As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (often under five pounds), slow growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips. Other frequent findings include excessive body hair (hirsutism), small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay. Limb differences, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some individuals.

Are learning disabilities always present?

Usually, ranging from mild to profound. The majority fall in the moderate to severe range.

Is CdLS hereditary?

Not in the usual sense of a gene passing directly from parent to child. It is likely that if a gene is involved, it is simply a rare and random change. This mutant gene is almost never passed on to the next generation because affected individuals seldom have children of their own. There have been rare instances in which mildly affected individuals have had children with the syndrome.

Can CdLS be detected before birth?

Not at present, although there are tests which may help resolve some of the uncertainty felt by CdLS families in future pregnancies. High resolution ultrasound may be useful to monitor for unusually poor fetal growth or detectable limb abnormalities. Genetic counseling centers are able to provide current information on the development of other prenatal tests.

If my child has CdLS, what can I expect?

Each child will progress at his/her own rate, but you can generally expect a slower than average rate of development. The area of speech and communication is often delayed, even in the more mildly affected. Infant stimulation programs and other developmental and therapeutic interventions are strongly recommended. Always educate yourself in order to help your child reach their potential. Seek advice from speech therapists and professionals in special education. Swimming is also a fun way to spend time with your child helping them to increase their physical development. In the early stages expect a lot of hospital check ups for the various physical defects associated with CdLS.