Autozomálně dominantní
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.
Příznaky a projevy
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.
Co se diagnózou změní
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.
Analyzované geny
Známé také jako
BCDS2; blepharo-cheilo-odontic syndrome caused by mutation in CTNND1; CTNND1 blepharo-cheilo-odontic syndrome
