THE ESSENTIAL
- In France, Cornelia de Lange syndrome affects approximately one in 100,000 births.
- This rare disease is manifested by intrauterine growth retardation, facial dysmorphism, hypertrichosis and developmental disorder.
- Cornelia de Lange syndrome is caused by disease-causing mutations in genes encoding a protein called “cohesin”.
- The treatments prescribed to patients make it possible to manage the symptoms of the pathology.
“Our sweet Avynn Mae went to join Jesus this morning. I was able to hold her in my arms during her last breath. She fought well and can rest now”. These are the words used by the mother of little Avynn Mae, in a publication on Instagram, to announce her death. The young mother shared her life and that of her daughter, aged 14 months, affected by Cornelia de Lange syndrome on social networks.
“She was our angel. She had a smile that lit up her face. I know many of you have been touched by her beautiful soul, even though you have never met her. We will miss her very much. Our hearts are broken, but we are at peace because she no longer suffers”, wrote the family of Avynn Mae, before thanking “all who have loved from afar” their daughter.
A rare disease that affects growth
Cornelia de Lange syndrome, which affected little Avynn Mae, is a malformation syndrome of variable severity. This pathology affects around one newborn in 100,000 in France, according to l’Inserm. “Its prevalence in Europe is between 1 birth in 62,500 and 1 birth in 45,000”, indicates the Orphanet, the portal dedicated to rare diseases and orphan drugs.
This disease is characterized by intrauterine and postnatal growth retardation and difficulties in food self-sufficiency during the first years of life. Cornelia de Lange syndrome is manifested by facial dysmorphism, namely “arched and marked eyebrows, a synophris (monobrow), long eyelashes, a short nose, a concave nasal bridge, anteverted nostrils, micrognathia, a long and smooth philtrum, and a drooping mouth with a thin upper lip “, details the Orphanet.
Children with this pathology also suffer from hypertrichosis (excessive and abnormal growth of hair), malformations of limbs and organs, hearing loss and developmental disorder (language delay, intellectual disability). Feeding difficulties and growth failure are often complicated by gastroesophageal reflux disease. Different behavioral disorders can also occur in patients affected by Cornelia de Lange syndrome.
How does Cornelia de Lange syndrome occur?
Pathogenic mutations in six genes, encoding a protein called “cohesin”, are at the origin of the appearance of Cornelia de Lange syndrome. The Orphanet specifies that there are still patients in whom no mutation could be identified. A molecular abnormality is identified in only about 70% of cases. In general, this mutation is present in the blood cells of patients.
What treatments are available?
For now, there is no treatment to cure Cornelia de Lange syndrome. “Gastroesophageal reflux and growth retardation require specialized care: enteral feeding by tube, gastrotomy and surgical treatment of reflux. Screening for organ malformations or neurosensory disorders can improve the quality of life”, develops the Orphanet.