Micrognathia and cleft palate are characteristic of which disorder?

• A. Cornelia de Lange syndrome
• B. Down Syndrome
• C. Noonan syndrome
• D. Pierre Robin sequence

Answer: (D)

Pierre Robin sequence is defined by micrognathia (a small mandible) that leads to glossoptosis (the tongue falling back) and often results in a cleft palate. The small jaw disrupts the normal forward growth and closing of the palatal shelves, so the palate fails to fuse properly, producing a cleft. This combination is most characteristic of this condition and helps distinguish it from other syndromes. For example, Cornelia de Lange typically shows distinctive facial features and limb anomalies, Down syndrome has a different facial gestalt and characteristic features, and Noonan syndrome includes short stature and congenital heart defects. So the pairing of a small jaw with a cleft palate points to Pierre Robin sequence.