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Condition report · Oral

Blepharocheilodontic Syndrome 2 (CTNND1)

A rare condition affecting the eyelids, lips and teeth, typically with wide eyelid openings, cleft lip or palate and missing teeth. It is caused by changes in one copy of the CTNND1 gene.

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The condition we analyse

Autosomal dominant

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.

Signs and symptoms

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.

What a diagnosis changes

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.

Genes analysed

Also known as

BCDS2; blepharo-cheilo-odontic syndrome caused by mutation in CTNND1; CTNND1 blepharo-cheilo-odontic syndrome

MONDO:0040503OMIM 617681MedGen 1623594Sources: [2][3][1]

References

  1. Blepharocheilodontic syndrome. MedlinePlus Genetics
  2. Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP et al., 2018. Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. Genetics in medicine : official journal of the American College of Medical Genetics
  3. Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT et al., 2021. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. Human molecular genetics

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