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

Caterina Cuppari; Annamaria Salpietro; Roberto Chimenz; Laura Colavita; Maria Domenica Ceravolo; Eloisa Gitto; Alessia Sallemi; Monica Fusco; Ida Ceravolo; Giovanni Farello; Giulia Iapadre; Clarissa Rocca; Ainara Salazar; Alessio Mancuso

doi:10.1055/s-0042-1759516

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2023; 21(01): 058-061
DOI: 10.1055/s-0042-1759516

Review Article

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

Caterina Cuppari

¹Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

,

Annamaria Salpietro

²Pediatrics Clinic, ASST-Spedali Civili of Brescia, Brescia, Italy

,

Roberto Chimenz

³Faculty of Medicine and Surgery, University of Messina, Messina, Italy

,

Laura Colavita

¹Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

,

Maria Domenica Ceravolo

¹Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

,

Eloisa Gitto

⁴Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age Gaetano Barresi, University of Messina, Messina, Italy

,

Alessia Sallemi

¹Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

,

Monica Fusco

¹Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

,

Ida Ceravolo

⁵Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

,

Giovanni Farello

⁶Pediatric Clinic, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila (AQ), Italy

,

Giulia Iapadre

⁷Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

,

Clarissa Rocca

⁸Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom

,

Ainara Salazar

⁸Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom

,

Alessio Mancuso

¹Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

› Author Affiliations

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.

Keywords

Joubert syndrome - anomalies oral-facial-digital - neurological anomalies

Full Text

References

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