Autoszomális domináns
Caused by changes in one copy of the CTNND1 gene, which helps cells stick together during development of the face. Changes usually stop one copy from working; they can be inherited from a parent or arise new.
Tünetek és jelek
Typical features are widened eyelid openings with outward-turned lower lids, extra eyelashes, cleft lip and/or palate, and missing or cone-shaped teeth. Features vary, even within one family. Less often there are hand or limb differences, heart defects or developmental problems.
Mit változtat a diagnózis
Care includes eye lubrication and eyelid surgery to protect the eye surface, cleft repair, and dental and orthodontic treatment. Genetic counselling is recommended; each child of an affected person has a 50% chance of inheriting the change, and parental testing helps clarify recurrence risk.
Vizsgált gének
Más néven
BCDS2; blepharo-cheilo-odontic syndrome caused by mutation in CTNND1; CTNND1 blepharo-cheilo-odontic syndrome
