Cleft velum (ORPHA:99772)
Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.
Epidemiology
The annual incidence varies from 1/3,300 to 1/10,000 births, depending on the geographic origin and ethnic group. It is more frequent in girls.
Clinical description
Cleft velum joins the buccal cavity and the nasopharynx or cavum. The clinical forms range from a partial cleft velum to a complete cleft velum extending to the posterior edge of the hard palate. A submucous cleft palate is a specific form with muscular and bony defects covered by the oral and nasal mucosa. In these cases, diagnosis is more difficult but milk reflux occurs from birth and speech problems can occur. Cleft velum can disrupt sucking-swallowing in newborns to varying degrees. In the non-syndromic forms, normal breastfeeding is possible. In syndromic forms, there is a risk of food aspiration (isolated or syndromic Pierre Robin sequence). Cleft velum can disrupt Eustachian tube physiology that can lead to incomplete drainage of the middle ear with recurrent infections (otitis) and transmission hypoacousia.
Etiology
This embryopathy appears between the 7th and 12th week of pregnancy following an error in fusion of the palatine process. Implicated causes include both genetic and environmental factors. Factors such as exposure to teratogenic substances during pregnancy (alcohol, tobacco or drugs) can have an influence on genetic susceptibility.
Diagnostic methods
Diagnosis is clinical.
Differential diagnosis
The presence of associated malformations allows for differentiation between isolated and syndromic forms. Differential diagnoses include syndromic hereditary forms of cleft velum (Pierre-Robin, Stickler, van der Woude and velocardiofacial syndromes;see these terms).
Antenatal diagnosis
Starting from the 2nd trimester, antenatal diagnosis with ultrasounds is possible by looking for a mandibular retrognathism, an anomaly associated with abnormal amniotic fluid flow. The case is submitted to a multidisciplinary center for prenatal diagnosis in order to establish if it is an isolated anomaly.
Management and treatment
Management requires multidisciplinary medical and surgical intervention from birth until the end of development. It involves primary surgery sometimes followed by secondary surgery (maxillo-facial and plastic). An initial treatment timeline is established during the neonatal period. Secondary management is adapted to the child and based on morphological and functional problems that may arise during growth and development. Speech therapy management involves guidance and rehabilitation from an early age as well as a pharyngoplasty before entering primary school, if necessary. ENT management monitors any seromucous (otitis), auditory or phonological manifestations.
Prognosis
The prognosis depends on the quality of initial management and the regular follow-up by an experienced multidisciplinary team. Cleft velum can have functional consequences (morphological, phonetic, and auditory) that require management in a specialized health center.

                            Last update: 
                            December 2011


                            - Expert reviewer(s): 
                            Dr Eva GALLIANI  - Pr Marie-Paule VAZQUEZ