MOBA syndrome
| Classification according to ICD-10 | |
|---|---|
| Q11.2 | Microphthalmos |
| ICD-10 online (WHO version 2019) | |
The MOBA syndrome , acronym for M ikr O phthalmie - B rain (brain) a trophy , is a very rare congenital disease with the main characteristics that give it its name.
Synonyms are: Syndromal Microphthalmia 10; MCOPS10
The names were suggested by the authors of the first description from 2006 by the Norwegian pediatricians Øivind J. Kanavin, Monika Haakonsen MD, Andrès Server MD and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000. So far, affected people have been described in three families, the inheritance is presumably autosomal - recessive . The cause is not yet known.
Clinical manifestations
Clinical criteria are:
- Congenital microphthalmia, blindness
- increasing spastic cerebral palsy
- Microcephaly , Epilepsy , Intellectual Disability
diagnosis
In magnetic resonance imaging, progressive atrophy of the white matter , the cerebral cortex , the cerebellum , the barbs and the brain stem .
literature
- NQ Richards, A. Flugrath, Ch. Pande, NL Courser: Chapter 3 - Genetic Abnormalities With Anophthalmia, Microphthalmia, and Colobomas In: NL Couser: Ophthalmic Genetic Diseases. A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities 2019, pp. 41–52, ISBN 978-0-323-65414-2 , doi: 10.1016 / B978-0-323-65414-2.00003-9
Web links
- MCOPS10. In: Online Mendelian Inheritance in Man . (English)
Individual evidence
- ↑ a b c d Microphthalmia - Brain Atrophy. In: Orphanet (Rare Disease Database).
- ↑ Ø.J. Kanavin, M. Haakonsen, A. Server, TJ Bajwa, MS van der Knaap, P. Strømme: Microphthalmia and brain atrophy: a novel neurodegenerative disease. In: Annals of neurology. Volume 59, Number 4, April 2006, pp. 719-723, doi: 10.1002 / ana.20827 , PMID 16566018 .
