Craniofacial and dental genetics

Why this matters

The mouth may reveal a genetic condition before other features are recognised. Accurate description of enamel, dentin, tooth number and craniofacial development can guide timely multidisciplinary assessment without turning appearance into diagnosis.

You will be able to

1. 1.Distinguish AI from DI.
2. 2.Recognise ectodermal dysplasia.
3. 3.Classify clefting safely.
4. 4.Describe tooth-number abnormalities.
5. 5.Explain trisomy 21 mechanisms.
6. 6.Apply counselling principles.

The 12 cards in this lesson

1. 01Phenotype first: define the affected structure
2. 02Amelogenesis imperfecta is a genetically heterogeneous enamel disorder
3. 03Where does each disorder begin?
4. 04Dentinogenesis imperfecta weakens the tooth from within
5. 05Clinical alert — in the lesson
6. 06Cleft lip and cleft palate are developmental categories, not one diagnosis
7. 07Tooth-number abnormalities require confirmation and context
8. 08Down syndrome reflects extra chromosome 21 material
9. 09Clinical alert — in the lesson
10. 10Different genetic tests answer different questions
11. 11Genetic counselling combines information, autonomy and support
12. 12A safe dental-genetics recognition atlas

You have got it when

You are ready to continue when you can name the primary tissue or developmental process involved, identify one syndromic red flag, and state why phenotype and a family history cannot replace genetic evaluation.