Philippine E-Journals

Otopalatodigital Syndrome

Candice Que-ansorge | Emmanuel S. Samson | Emmanuel Cruz

 

Abstract:

Objective: To report a case of otopalatodigital syndrome, a single gene disorder, its clinical presentation, differential diagnosis, prognosis and management options.

 

Study design: Case report

 

Setting: Tertiary hospital

 

Case Report: A 16 year old female was admitted due to dehiscence of a previous uranoplasty. She was born with cleft lip and palate and other congenital anomalies such as macrocephaly, hypertelorism, supernumerary teeth – tuberculate type, schistoglossia with ankyloglossia and broad based nail on both index fingers, with normal cognitive development. She underwent cleft lip repair at age 10 months and cleft palate repair at age 13. She developed wound dehiscence one month after uranoplasty. Ct scan showed cleft palate with irregularly hypertrophied maxilla and bony protrusion into the left nostril. She underwent revision cheiloplasty and uranoplasty, excision of a bony spur that obstructs the left nostril, rhinoplasty and oronasal fistula repair. Because of these multiple congenital anomalies, karyotyping was requested which demonstrated normal 46 XX genetic constitution. A consultation to a geneticist revealed that this is a case of an Oto-palato-digital syndrome, a rarely encountered single gene disorder.

Conclusion: A case of otopalatodigital syndrome secondary to a single gene disorder was presented. This is a rare disorder affecting less than 1 in every 100,000 livebirths. Our patient underscores the role of Otolaryngologists and maxillofacial surgeons in the restoration and cosmetic considerations of these unique individuals. In cases of multiple anomalies, the geneticist holds the key to explain the constellation of congenital anomalies such as in our patient. (keywords – otopalatodigital syndrome, Melnick-Needle syndrome, singe gene disorder).