Search for a rare disease
Other search option(s)
Cleft palate-lateral synechia syndrome
Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.
ORPHA:2016Classification level: Disorder
11 cases have been reported in the worldwide literature.
Patients present with cleft palate at birth and on examination are found to have multiple cord-like adhesions running from the free internal borders of the palate to the lateral parts of the tongue and floor of the mouth. Babies manifest symptoms of cleft palate such as disrupted sucking and swallowing, recurrent ear infections and speech impairment. Lateral synechiae may be asymptomatic or cause feeding difficulty due to restricted opening of mouth. In some cases the synechiae undergo spontaneous resolution.
Etiology is unclear but interposition of the tongue between the palatal shelves in the embryo due to genetic, teratogenic or mechanical insults could result in a cleft palate while close contact between the floor of the mouth and the palate could predispose to the formation of intraoral synechiae. This can be either due to failed regression of buccopharyngeal membrane or formation of subglossopalatal membrane during the 7th week of embryonic life. Less than normal movement of the mandible and tongue is presumed to predispose to the formation of this subglossopalatal membrane.
Diagnosis is clinical. When necessary, computed tomography can help to detect the presence of any bony fusion.
Phenotypic features of CLPS can occur with other congenital anomalies, particularly the Van der Woude (VDW), orofaciodigital syndrome and popliteal pterygium syndrome (see these terms). In one reported family with CPLS, the monozygotic twin of the index case had classic phenotypic features of Fryns syndrome (see this term) suggesting that CPLS may represent a mild phenotypic expression of this syndrome.
Prenatal diagnosis of cleft palate can be made by prenatal ultrasonogram.
An autosomal dominant inheritance pattern with variable expressivity has been proposed.
Management and treatment
Management includes excision of synechiae and palatal closure. Immediate excision of the synechiae may be necessary due to breathing or feeding problems; obtaining a safe airway for the release of the bands may be difficult. When immediate release of synechiae is not warranted, excision is done during palatal closure. The synechiae has been used to provide additional tissue for the surgical closure of soft palate.
The prognosis depends on the presence of associated anomalies (especially, congenital syngnathia (see this term)), quality of initial repair and regular follow-up.
A summary on this disease is available in Español (2014) Français (2014) Nederlands (2014) Deutsch (2004) Italiano (2004)