Oral-facial-digital syndrome is a group of syndrome at least with 10 different varieties.  They are named as OFDS Type I, OFDS Type II and so on. Type-I is the commonest and the rest are very rare.  

Incidence

• 1 in 50,000-250,000 births

Signs and Symptoms

• Dysmorphic in presentation
• Developmental delay
• Poor cognition / Sub normal intelligence
• Spastic movements
• Seizure disorders
• Usually small fingers, Polydactyly
• Speech impairment
• Eyes set widely apart, squint,
• Small jaw, cleft lip / palate, extra or missing teeth,
• Angled ears, one nostril smaller than the other
• Growth retardation

Types / Verities

• OFDS type I disease (Papillon-Leage-Psaume syndrome)
• OFDS type II disease (Mohr syndrome)
• OFDS type III (Sugarman syndrome)
• OFDS type IV (Baraister-Burn syndrome)
• OFDS type V (Thurston syndrome)
• OFDS type VI (Varadi syndrome)
• OFDS type VII (Whelan syndrome)
• OFDS type VIII (Edwards syndrome).
• OFDS type IX (OFD syndrome with retinal abnormalities)
• OFDS type X (OFD with fibular aplasia)
• OFDS type XI (Gabrielli syndrome/Toriello syndrome)
• OFDS type XII (Moran-Barroso syndrome)
• OFDS type XIII (Degner syndrome)
• OFDS type XIV
•  

Causes

• Genetic

Diagnosis Making

• Through Genetic Testing

Treatment / Management

• There is no cure. Medical management for associated problems such as kidney disorder, vision problems, etc
• Surgical treatment for facial clefts, polydactyly, club foot, etc
•  

Therapy

• Physiotherapy
• Use of Assistive Aids
• Occupational Therapy
• Speech Therapy
• Special education and behavior therapy

Prognosis
Most of the children with Orofascial digital syndrome have limitations in life but can be trained.

If you want to know more about Orofascial digital Syndrome or want to consult us, please contact us
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