Fenotipos Faciales en el Síndrome de Cornelia de Lange (CdLS) El Síndrome de Cornelia de Lange (CdLS) es una condición genética compleja que se caracteriza por una serie de anomalías fisiológicas y neurológicas. Entre estas anomalías, los fenotipos faciales son una de las marcas clínicas más reconocibles, facilitando su identificación clínica. Estos signos faciales no …
Category archives: rare diseases
Situation analysis of referrals to SIFCO in the CV.
Centers, services and reference units of the SNS. https://www.sanidad.gob.es/profesionales/CentrosDeRereference/home.htm The project for the designation of Centers, Services and Reference Units (CSUR) of the National Health System (SNS) has as its objectives: In order to make effective the provisions of Law 16/2003, of May 28, on cohesion and quality of the National Health System, …
Continue reading «Análisis de situación de las remisiones a SIFCO en la CV.»
Orphan Anesthesia
https://www.orphananesthesia.eu/en/rare-diseases/published-guidelines.html
Mitochondrial diseases.
Mitochondrial diseases are a group of genetic disorders that affect the mitochondria, the cellular structures responsible for producing energy in the form of ATP (adenosine triphosphate). These diseases are caused by mutations in mitochondrial DNA or in nuclear genes that encode proteins related to mitochondrial function. Because mitochondria are…
Diseases peroxisomal.
Newborn screening for SMA.
https://www.iislafe.es/es/sociedad/noticias/3163/la-fe-pondra-en-marcha-un-programa-piloto-de-cribado-neonatal-para-detectar-la-atrofia-muscular-espinal
Down syndrome in mosaic.
Children with mosaic Down syndrome are difficult to diagnose. There is an international initiative and a pilot research study that can be used in case of clinical suspicion.
