What syndromic associations should clinicians consider with cleft lip/palate?

• A. Pierre Robin sequence, van der Woude syndrome, and 22q11.2 deletion among others; evaluate for additional anomalies.
• B. Down syndrome only.
• C. Cleft lip/palate is never syndromic.
• D. Marfan syndrome.

Answer: (B)

Cleft lip/palate can occur as an isolated finding, but it is also a feature of many syndromes and sequences. Because the presence of a cleft can signal underlying genetic or multi-system involvement, clinicians should actively look for additional anomalies that might point to a broader diagnosis and guide management and genetic counseling. You’ll encounter associations such as Van der Woude syndrome, where cleft lip/palate is paired with distinctive lip pits; 22q11.2 deletion syndromes (DiGeorge/velo-cardio-facial) that often include palate involvement along with cardiac defects and immune issues; Pierre Robin sequence, which involves micrognathia and glossoptosis with cleft palate and can appear as part of a broader syndrome; and other conditions like Stickler and Treacher Collins that bring facial dysmorphism and airway or feeding considerations. The takeaway is to assess for related signs—heart defects, hearing problems, airway compromise, facial dysmorphism, limb anomalies—and to consider genetic evaluation when a syndromic pattern emerges. Down syndrome can have many associated features, but it is not the only or primary syndromic context to be mindful of with cleft lip/palate, and other syndromic associations are important to consider as well.