To identify signs of associated syndromes in a newborn presenting with cleft lip and palate, a thorough physical assessment is essential, focusing on dysmorphic features beyond the orofacial cleft itself. This includes careful examination for limb anomalies, cardiac murmurs, ear abnormalities, and neurological signs, as these may indicate syndromic involvement NICE NG72 Merritt 2005. A detailed family history and prenatal imaging findings should also be reviewed to assess for syndromic patterns or genetic conditions NICE NG72 Abramson et al. 2015. Feeding difficulties and respiratory issues may further suggest syndromic craniofacial anomalies, warranting multidisciplinary evaluation including genetics, cardiology, and neurology NICE NG72 Miller 2011. Early referral for genetic testing and specialist assessment is recommended when additional anomalies or developmental concerns are present NICE NG72. Radiological imaging can support diagnosis by identifying associated skeletal or intracranial abnormalities that may accompany syndromic clefts Abramson et al. 2015. Overall, integration of clinical examination, family and prenatal history, feeding and respiratory assessment, and targeted imaging facilitates early recognition of syndromes associated with cleft lip and palate NICE NG72 Merritt 2005Miller 2011Abramson et al. 2015.
Key References
- NG72 - Developmental follow-up of children and young people born preterm
- NG127 - Suspected neurological conditions: recognition and referral
- (Merritt, 2005): Part 2. Physical assessment of the infant with cleft lip and/or palate.
- (Miller, 2011): Feeding issues and interventions in infants and children with clefts and craniofacial syndromes.
- (Abramson et al., 2015): Radiology of Cleft Lip and Palate: Imaging for the Prenatal Period and throughout Life.