About Cornelia de Lange Syndrome
Cornelia de Lange Syndrome is a congenital syndrome. The features are present at birth, with most signs recognizable at birth or shortly after. The prevalence of Cornelia de Lange syndrome is roughly between 1 in 10,000 to 1 in 30,000 live births. The alteration of three genes know as NIPBL, SMC1A and SMC3 have been identified as the cause of Cornelia de Lange Syndrome. Cornelia de Lange Syndrome is not hereditary in the usual sense of a gene passing directly from parent to child. It is usually simply a rare and random mutation. Rarely, a mildly affected person with Cornelia de Lange may have a child of their own and can pass the gene change on to their child.
Cornelia de Lange Syndrome is characterised by a number of features including
- Atypical facial features such as thin eyebrows that meet in the middle (synophrys -monobrow), long eyelashes, a short upturned nose, and thin down-turned lips
- Slow growth related features such low birth weight (often under 3kgs), small stature, and small head size (microcephaly)
- Excessive body hair
- Small hands and feet that sometimes have partial joining of the second and third toes or incurved fifth fingers
- Gastro oesophageal reflux disease, heart defects, seizures,
- Feeding difficulties
- Vision problems
- Hearing loss
- Limb deformities including missing arms, forearms or fingers are present in 25% of cases
- Developmental delays
- Behavioural issues
- Communication difficulties
- Cleft palate
- Bowel abnormalities
The features of Cornelia de Lange Syndrome vary widely among affected individuals and range from relatively mild to severe symptoms. Life expectancy for these individuals was previously significantly shorter as many children died of serious medical issues soon after birth as these issues were not anticipated. However this is no longer the case and most individuals with Cornelia De Lange Syndrome now live well into adulthood.
People with Cornelia de Lange Syndrome usually require the services of a speech pathologist to treat difficulties with speech, eating and drinking. If you have questions about speech pathology, contact your local doctor, who will arrange for you to see a speech pathologist. We‘ll provide you with a straightforward, efficient and very effective treatment plan targeted to your concerns. Contact Us Today!