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: Phenotyping
When to suspect a genetic disease?
Diagnostic suspicion is based on 3 pillars: There are several diagnostic strategies, which can be grouped into:
Neurocristopathies: Embryology and neurodevelopment.
Human Phenotype Ontology
Currently, the use of computerized tools for information search makes it necessary to use standardized and coded nomenclature to refer to the dysmorphic signs that are part of the clinical phenotype. A significant effort has been made to systematize this nomenclature, adding an HPO code that can be searched on the Human … website.
Phenomyzer
Phenomyzer is a phenotyping tool from Charité Universitätsmedizin Berlin.