Congenital absence of uvula with velopharyngeal insufficiency and its implications

Choudhury, Krishnendu and Chakraborty, Ardhendu (2025) Congenital absence of uvula with velopharyngeal insufficiency and its implications. World Journal of Biology Pharmacy and Health Sciences, 22 (1). 074-077. ISSN 2582-5542

Isolated nonsyndromic cleft palate may be associated with absence of uvula. It is very rare to see the congenital absence of uvula without any other associated congenital anomaly. Velopharyngeal insufficiency (VPI) is a relatively infrequent disorder in children which usually presents with disordred speech development and recurrent respiratory infection due to improper closure of mouth cavity from the nose during productive speech and swallowing. Important causes of VPI in children include congenital deformity of soft palate, pharynx and /or uvula. Other causes like cerebral palsy, neuromuscular dysfunction including congenital myopathy may cause secondary VPI, so-called velopharyngeal 'incompetence'. Without early diagnosis and timely intervention, the affected children can develop significant speech impairment and social- intellectual suffering. We describe here a girl child of 8 years without any facial or limb dysmorphism who presented with impaired speech and language development and recurrent upper respiratory infection from VPI resulting from congenital absence of uvula. She eventually developed poor social interaction for which counselling was conducted. She was also treated with speech therapy and referred to pediatric plastic surgeon for a possible uvuloplasty