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 abnormalities: Short nose with depressed nasal bridge, anteverted nostrils (pointing upwards) and bulbous nasal tip.
- Long and flat philtrum: Increased distance between the nose and the upper lip, which lacks the usual groove.
- Lips and mouth: Very thin upper lip with the corners of the mouth directed downwards (sad mouth appearance).
- Micrognathia: Small jaw, often accentuated by low set ears.