Management of CTNND1-related disorders is supportive and symptomatic.
Cleft lip/palate
Cleft lip management is surgical, dental, and orthodontic. Speech therapy, otolaryngology and audiologic evaluation are usually recommended.
Dental anomalies
Early orthodontic follow-up should be proposed. In patients with oligodontia, dental implants or dental prostheses should be considered.
Eyelid malformations
Ankyloblepharon usually requires surgery. Blepharoplasty could be considered in patient with severe eyelid anomalies. Lagophthalmos, can lead to corneal abrasion, and scarring should be medically treated. Ophthalmologic evaluation is indicated to assess eye movement and possible diminished tearing.
Hypothyroidism
Hypothyroidism is due to thyroid gland hypoplasia or aplasia and is usually diagnosed through neonatal screening. Hypothyroidism is treated with thyroid replacement therapy.
Genetic counselling
Patients harboring BCD syndrome features and carrying a variant in CTNND1 have a 50% risk to transmit the pathogenic variant to their offspring. However, due to intrafamilial variability, it is difficult to predict the severity. Prenatal testing is achievable, but if the pathogenic variant is identified in the fetus, the possibility of a mild form of the condition should be discussed. Detailed ultrasound fetal anatomic examination must be performed for the early-detection of severe cleft lip/palate (CLP).
Patients affected with Non-Syndromic Cleft Lip with or without Cleft Palate (NSCLP) also have a 50% risk to transmit the pathogenic variant. However, estimation of the risk of CLP or Blepharocheilodontic (BCD) syndrome in their offspring is undetermined. Detailed ultrasound fetal anatomic examination must be proposed.