Anomalies 3 - Facial cleft & Other mutations

Ankyloglossia - Tongue tie

Unusually short, thick lingual frenulum, a membrane that connects the underside of the tongue to the floor of the mouth. Restricts tongue movement.

Bifid tongue

Bifid Tongue is a condition where the tongue is split or has a cleft, as seen in a case by Aaron et al., 2007.

DiGeorge Syndrome (Velo-Cardio-Facial Syndrome)

• 22q11.2 deletion syndrome

• Learning disabilities.

• Cardiac abnormalities (e.g., interrupted aortic arch, truncus arteriosus, tetralogy of Fallot).

• Abnormal facial features.

• Thymic aplasia.

• Cleft palate.

• Hypocalcemia and Hypoparathyroidism.

Shprintzen (Velo-Cardio-Facial Syndrome)

Involves cleft palate, cardiac anomalies, typical facial features, and learning disabilities.