Joubert Syndrome with Oral-Facial-Digital Defect (JS-OFD): A Brief Overview on Clinics and Genetics

 

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Abstract

Joubert's syndrome with digital facial oral defects represents a rare subgroup of Joubert's syndrome with related disorders. There are 11 forms of oral-facial-digital syndromes and are characterized by having neurological signs of JS associated with orofacial anomalies and often polydactyly. The most severe variant is the OFD type VI (Varadi-Papp syndrome) in which there are tongue hamartomas, multiple frenula, midline notch of the upper lip, mesoaxial polydactyly, and hypothalamic hamartomas. Treatments are symptomatic and supportive with reconstructive surgery for correctable malformation and physical therapy, occupational therapy, speech therapy, and infant stimulation for mental delay.

Authors' Contributions

Conceptualization: A.S., G.I.; Investigation: C.C., L.C.; Resources: E.G., A.M.; Data curation: M.F., C.R., A.S.; Writing-original draft preparation: I.C.; Writing review and editing: G.F., M.D.C.; Supervision: A.M. All authors have read and agreed to the published version of the manuscript.

Data Availability Statement

The data presented in this study are available on re-quest from the corresponding author.

Publication History

Received: 22 August 2022

Accepted: 27 October 2022

Article published online:
05 December 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

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