Cutaneous findings vary depending on the specific type of OFDS and include vanishing milia of the face and ears by age 3 years and alopecia and/or brittle hair.
The oral findings include highly arched palate, lobate tongue, lingual hamartomas, and accessory oral frenula, among others. Examples of facial findings include telecanthus, hypertelorism, and cleft lip. Digital findings are broad, and include syndactyly, brachydactyly, and polydactyly of the hands and feet.
The different types are classified as follows:
- OFDS I: Papillon-Léage-Psaume syndrome
- OFDS II: Mohr syndrome
- OFDS III: Sugarman syndrome
- OFDS IV: Baraitser-Burn syndrome
- OFDS V: Thurston syndrome
- OFDS VI: Varadi-Papp syndrome
- OFDS VII: Whelan syndrome
- OFDS VIII: Edwards syndrome
- OFDS IX: Gurrieri syndrome
- OFDS X: Figuera syndrome
- OFDS XI: Gabrielli syndrome
- OFDS XII: Moran-Barroso syndrome
- OFDS XIII: Degner syndrome