Familial Absent Uvula With Velopharyngeal Incompetence—A New Syndrome?. (April 2020)

• Record Type: Journal Article
• Authors: Sommerlad, Brian; Seselgyte, Rimante; Lees, Melissa; Pauws, Erwin; Stanier, Philip; Sell, Debbie
• Is Part Of: Cleft palate-craniofacial journal. Volume 57:Number 4(2020)
• Page Start: 514
• Page End: 519
• Publication Date: 2020-04
• Subjects: familial -- absent uvula -- FOXF2 -- hypernasality -- velopharyngeal incompetence -- speech disorder; Cleft palate -- Periodicals; Skull -- Abnormalities -- Periodicals; Cranial manipulation -- Periodicals; Skull -- Abnormalities -- Surgery -- Periodicals; Face -- Abnormalities -- Surgery -- Periodicals; Fente palatine -- Périodiques; Crâne -- Malformations -- Périodiques; Manipulation crânienne -- Périodiques; Crâne -- Malformations -- Chirurgie -- Périodiques; Face -- Malformations -- Chirurgie -- Périodiques; Cleft palate; Cranial manipulation; Face -- Abnormalities -- Surgery; Skull -- Abnormalities; Skull -- Abnormalities -- Surgery; Cleft Lip; Cleft Palate; Facial Bones -- abnormalities; Skull -- abnormalities; Periodicals; Periodicals; Periodicals; 617.522
• DOI: 10.1177/1055665619880401
• Languages: English
• ISSNs: 1055-6656

Abstract

We present a family with a previously undescribed abnormality of the palate and oropharynx which involved the absence of the uvula and the anterior pillar of the fauces, rudimentary posterior pillar of the fauces, and hypernasality. Eight family members over 4 generations are affected in a pattern consistent with autosomal dominant inheritance. A causal role for the FOXF2 gene has been identified and previously reported. We describe the management of the proband, which involved attempting to lengthen the palate and to retroposition the abnormally anteriorly directed velar musculature, along with speech therapy.