Oral-facial-digital syndrome (OFDS): clinical features

Oral features

• Gingival frenulae: Types I, II, IV, VI, VII, VIII, IX, X, XI, XII, XIV
• Lingual hamartomas: Types I, II, III, IV, VI, VII, VIII, IX, XIII, XIV
• Cleft lip: Types I, V, VI, VII, VIII, IX, XIII
• Cleft palate: Types I, IV, VI, VII, IX, X, XI, XIV, DDX59,
• Lobulated tongue: Types I, II, III, IV, VI, VIII, IX, XIV, DDX59
• Bifid tongue: Type XII
• Bifid uvula: Type III
• Tooth hypoplasia: Type III
• Epiglottis hypoplasia: Type VIII, II
• Synophrys (monobrow): Type IX
• Supernumerary teeth: Type XII

Facial features

Hand and feet features

Dermatological features

Renal features

Cardiac features

Neurological features

Skeletal features

Systemic features

References

1. Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016; 5:12.
2. Hsieh YC, Hou JW. Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect. Am J Med Genet 1999; 86:278-281.
3. Nagai K, Nagao M, Nagao M, et al. Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation. J Med Genet 1998; 35:342-344.
4. Gurrieri F, Sammito V, Ricci B, Iossa M, Bellussi A, Neri G. Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII) Am J Med Genet 1992; 42:789-792.
5. Ozdemir-Karatas M, Ozdemir-Ozenen D, Hart PS, Hart TC. Craniodentofacial manifestations in a rare syndrome: orofaciodigital type IV (Mohr-Majewski Syndrome). Case Rep Dent 2014; 2014:605892. 
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Related checklists

• Oral-facial-digital syndrome (OFDS): types
• Oral-facial-digital syndrome type 1 (OFDS1)