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A fetus is noted to have unilateral cleft lip on prenatal ultrasound. Amniocentesis reveals a normal microarray. After birth, no other anomalies are identified and the cleft is considered isolated.
Multifactorial (isolated) vs. syndromic
- ~70% of cleft lip ± palate is isolated (non-syndromic)
- ~50% of cleft palate only is syndromic
Isolated cleft lip ± palate:
- Recurrence risk: ~3-5% for first-degree relatives
- Higher risk if bilateral and more severe
Syndromic associations:
- Van der Woude syndrome (IRF6)
- 22q11.2 deletion
- Trisomy 13
- Stickler syndrome
- Cleft lip ± cleft palate is embryologically different from isolated cleft palate
- Always evaluate for syndromic features
- Feeding support, surgical repair, speech therapy, dental/orthodontic care
- Often detected on prenatal ultrasound (cleft lip from ~13-16 weeks); cleft palate alone is difficult to visualize prenatally
- Postnatal physical exam confirms the cleft and characterizes type (lip, palate, or both; unilateral vs bilateral)
- Evaluate for syndromic features and consider chromosomal microarray plus targeted testing (for example IRF6 for Van der Woude, 22q11.2 deletion testing)
- Multidisciplinary cleft team: surgery, otolaryngology, audiology, speech-language pathology, dentistry/orthodontics, genetics
- Feeding support with specialized bottles/nipples to ensure adequate intake
- Cleft lip repair typically around 3-6 months; cleft palate repair typically around 9-18 months
- Speech therapy and serial hearing evaluation (middle ear effusion is common); tympanostomy tubes as needed
- Staged dental, orthodontic, and possible alveolar bone grafting through childhood and adolescence