Moeschler-Clarren Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q75.8 | Other specified congenital malformations of the skull and facial bones |
| ICD-10 online (WHO version 2019) | |
The Moeschler-Clarren syndrome is a very rare congenital disease with the main features of a hemifacial microsomia (dwarfism one side of the face) combined with a malformation (defect) of the spoke .
Synonyms are: Goldenhar syndrome with ipsilateral radial defect; OAVS with radial defect ; English Oculoauriculovertebral Spectrum with Radial Defect; Hemifacial Microsomia with Radial Defects
The name refers to the first authors of the first description from 1982 by the US doctors John Moeschler and Sterling K. Clarren .
distribution
No precise information is known about the frequency, mode of inheritance and cause of this combination; 32 patients have been reported to date.
An autosomal dominant mode of inheritance was suspected by Moeschler and Clarren.
history
The combination of OAVS with radial defects has already been described, but the radius defects were considered to be part of the OAVS.
Individual evidence
- ↑ Microsomia, hemifacial - radial defects. In: Orphanet (Rare Disease Database).
- ^ J. Moeschler, SK Clarren: Familial occurrence of hemifacial microsomia with radial limb defects. In: American journal of medical genetics. Vol. 12, No. 4, August 1982, pp. 371-375, doi: 10.1002 / ajmg.1320120403 , PMID 7124792 .
- ^ A b S. Vendramini, A. Richieri-Costa, ML Guion-Almeida: Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature. In: European Journal of Human Genetics : EJHG. Vol. 15, No. 4, April 2007, pp. 411-421, doi: 10.1038 / sj.ejhg. 5201770 , PMID 17290277 (review).
- ↑ HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS. In: Online Mendelian Inheritance in Man . (English)
