Oro-facio-digital syndrome type 12
| 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 12 or ( OFD XII ) is a very rare congenital disease with a combination of Meningomyocele , stenosis of aqueduct of midbrain and heart failure along with typical changes in the Oro-facial-digital syndrome .
Synonyms are: Moran-Barroso syndrome; OFD12
The first description is from 1998 by the Mexican human geneticist V. Morán-Barroso and colleagues.
Spread and cause
The frequency is given as less than 1 in 1,000,000, the cause and possible mode of inheritance are not yet known.
Clinical manifestations
Clinical criteria are:
- Manifestation as a newborn
- Heart defect septal hypertrophy
- Disturbances in the central nervous system such as meningomyelocele, aqueduct stenosis , corpus callosum agenesis or hypoplasia of the cerebellum
- Malformations of the mouth, face and fingers or toes such as abnormal ligaments of the tongue , forked tongue, accessory teeth , macrocephaly , hypertelorism
- Polydactyly , clubfoot
possibly still shortened shin , Y-shaped metatarsal bones
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
- A. Maryam, H. Jain, S. Mulay: Classification & Molecular Biology of Orofaciodigital Syndrome Type I In: International Journal of Scientific Study , Vol. 1, No. 3, 2013, [1]
Individual evidence
- ↑ a b c Oro-facio-digital syndrome type 12. In: Orphanet (database for rare diseases).
- ↑ V. Morán-Barroso, M. Valdés Flores, R. García-Cavazos, S. Kofman-Alfaro, D. Saavedra-Ontiveros: Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability? In: Clinical dysmorphology. Volume 7, Number 1, January 1998, pp. 55-57, PMID 9546832 .
