Oro-facio-digital syndrome type 14
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The Oro-facial-digital syndrome type 14 or ( OFD X ) is a very rare congenital disease with a combination of hamartomas , cleft palate , polysyndactyly , leg shortening and microcephaly , micropenis and Mental disability and one of the Oro-facial-digital syndromes .
Synonym : English DDX59-related orofaciodigital syndrome
The first description comes from 2014 by the French human geneticist Christel Thauvin-Robinet and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
The disease are mutations in C2CD3 - gene on chromosome 11 locus q13.4 basis.
Clinical manifestations
Clinical criteria are:
- Tongue hamartomas, forked tongue, cleft palate, atypical frenulum of the tongue
- preaxial polydactyly of the feet and postaxial polydactyly of the hands
- Microcephaly with significant intellectual disability
- Micropenis
- Hypoplasia of the cerebellar worm , lack of bars , cysts in the subarachnoid space of the right occipital lobe and the posterior cranial fossa .
Differential diagnosis
Other forms of orofacio-digital syndrome must be distinguished.
literature
- 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
Individual evidence
- ↑ a b c Oro-facio-digital syndrome type 14. In: Orphanet (database for rare diseases).
- ↑ C. Thauvin-Robinet, JS Lee, E. Lopez, V. Herranz-Pérez, T. Shida, B. Franco, L. Jego, F. Ye, L. Pasquier, P. Loget, N. Gigot, B. Aral, CA Lopes, J. St-Onge, AL Bruel, J. Thevenon, S. González-Granero, C. Alby, A. Munnich, M. Vekemans, F. Huet, AM Fry, S. Saunier, JB Rivière, T. Attié-Bitach, JM Garcia-Verdugo, L. Faivre, A. Mégarbané, MV Nachury: The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. In: Nature genetics. Vol. 46, No. 8, August 2014, pp. 905-911, doi: 10.1038 / ng.3031 , PMID 24997988 , PMC 4120243 (free full text).
- ↑ Orofaciodigital syndrome XIV. In: Online Mendelian Inheritance in Man . (English)
