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Oro facial-digital syndromes for orthodontist by almuzian
1. Oro-facial-digital syndromes
Prevalence
• 1 in 50,000
• Types I - VIII, all with similar features
Aetiology
Orofaciodigital syndrome type 1 is caused by
mutations in the OFD1 gene.
General signs
• Digital anomalies: brachydactyly, syndactyly,
polydactyly
Facial features
• Frontal bossing,
• Euryopia,
• Hypoplasia of alar cartilages
• Zygomatic hypoplasia
Oral features
• Pseudocleft of midline of upper lip (45%)
• CP - SP (80%)
• Tongue hamartomas, clefts or lobulations
• Fraenal hyperplasia
• Supernumeraries and hypodontia