Oro-facio-digital syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face - orofazio-digital syndromes |
| ICD-10 online (WHO version 2019) | |
The term orofazio-digital syndrome (OFD) covers a number of rare congenital malformation syndromes that predominantly involve the face .
Synonyms are: OFDS; Latin dysplasia linguofacialis ; english Oro-facio-digital syndrome; OFDS; Orodigitofacial dysostosis; Orodigitofacial syndrome; Orofaciodigital syndrome
Classification
- Oro-facio-digital syndrome type 1 (Papillon-Léage-Psaume syndrome)
- Oro-facio-digital syndrome type 2 (Mohr syndrome)
- Oro-facio-digital syndrome type 3 (Sugarman syndrome)
- Oro-facio-digital syndrome type 4 (Baraitser burn syndrome)
- Oro-facio-digital syndrome type 5 (Thurston syndrome)
- Oro-facio-digital syndrome type 6 (Joubert syndrome with oro-facio-digital defect) (Varadi-Papp syndrome; Váradi syndrome)
- Oro-facio-digital syndrome type 7 (Whelan syndrome)
- Oro-facio-digital syndrome type 8 (Edwards syndrome)
- Oro-facio-digital syndrome type 9 (with retinal anomalies)
- Oro-facio-digital syndrome type 10 (with fibular aplasia)
- Oro-facio-digital syndrome type 11 (Gabrielli type)
- Oro-facio-digital syndrome type 12 (Moran-Barroso syndrome)
- Oro-facio-digital syndrome type 13 (Degner syndrome)
- Oro-facio-digital syndrome type 14
literature
- Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
Individual evidence
- ^ Oro-facio-digital syndrome. In: Orphanet (Rare Disease Database).
- ^ B. Franco, Ch. Thauvin-Robinet: Update on oral-facial-digital syndromes (OFDS). In: Cilia. Vol. 5, p. 12, 2016, doi: 10.1186 / s13630-016-0034-4
