In the first Congress of the National Association of Families with Cornelia de Lange syndrome which was held last weekend in Sant Andreu de la Barca (Barcelona), announced that those affected by this syndrome will have an interdisciplinary Medical Unit in the Department of Pediatrics of the Faculty of Medicine of the University of Zaragoza and the Clinical Hospital University 'Lozano Blesa' of the Aragonese capital.
This new unit by Dr. Feliciano J. Ramos Fuentes, pediatrician, geneticist and professor of Pediatrics, will offer diagnosis, follow-up and support to affected people as well as their families.
Cornelius de Lange Syndrome is a congenital syndrome that affects approximately one in 30,000 babies. In principle, the causes that produced it were unknown, but Dr. Ian Krantz of the Children's Hospital of Philadelphia identified a mutation in the gene called NIPBL on chromosome 5. It is characterized by growth retardation before and after birth and has features Characteristic facials such as thin and close eyebrows, short and snub nose, thin lips with the corners down, etc. They also have lower birth weight and a small stature, smaller than normal head, excess hair in some parts of the body, musculoskeletal malformations in legs and arms, psychomotor and mental retardation in different grades, etc. The severity of these characteristics, among others, depends on each case.
The new Medical Unit will be a great help for attention and guidance, they will continue investigating the different mutations of the NIPBL gene, in addition to the study of other possible genes that cause the syndrome.
