Facial Phenotypes in Cornelia de Lange Syndrome (CdLS) Cornelia de Lange syndrome (CdLS) is associated with a characteristic facial dysmorphic pattern that facilitates its clinical diagnosis: Synophridia: Very well-defined eyebrows, arched and united in the midline, along with unusually long eyelashes. Nasal anomalies: Short nose with depressed nasal bridge,…
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.
