Micro syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The micro-syndrome is a very rare congenital disease with the main characteristics of malformation of the eyes , disturbance of neurological development and small reproductive organs .
Synonyms are: Warburg micro syndrome ; WARBM .
The name refers to the first author of the first description from 1993 by the Danish ophthalmologist Mette Warburg and colleagues.
The disease is not to be confused with Walker-Warburg syndrome , a congenital muscular dystrophy .
distribution
The frequency is unknown; 26 patients have been reported to date. Inheritance is autosomal - recessive .
root cause
Depending on the underlying mutation , the following forms can be distinguished:
- WARBM1 , mutations in RAB3GAP1 - gene on chromosome 2 locus q21.3
- WARBM2 , mutations in the RAB3GAP2 gene on chromosome 1 locus q41. This gene is also changed in Martsolf syndrome .
- WARBM3 , mutations in the RAB18 gene on chromosome 10 locus p12.1
- WARBM4 , mutations in the TBC1D20 gene on chromosome 20 locus p13
The Rab3 family of proteins is involved in the regulated exocytosis of neurotransmitters and hormones . The hypogenitalism is believed to be hypothalamic . The disturbances in eye and neurological development are probably the result of changes in the transport and exocytosis of neurotransmitters.
Clinical manifestations
Clinical criteria are:
- Eye malformations, microphthalmia
- Microcephaly , corpus callosum agenesis or hypoplasia, and
- impaired neurological development, severe intellectual disability
- Microgenitalism, hypogenitalism
diagnosis
The combination of microphthalmia, microcornea , cataract , tonus-free pupils , slight optic atrophy and cortical visual disturbance is considered to be pathognomonic .
literature
- D. Kabzińska, H. Mierzewska, J. Senderek, A. Kochański: Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. In: Folia neuropathologica. Vol. 54, No. 3, 2016, pp. 273-281, PMID 27764520 .
- PK Sekhon, R. Premalatha, S. Sabapathy: Warburg micro syndrome in siblings from India. In: Journal of pediatric neurosciences. Vol. 11, No. 1, 2016 Jan-Mar, pp. 83-85, doi: 10.4103 / 1817-1745.181255 , PMID 27195044 , PMC 4862300 (free full text).
Individual evidence
- ↑ a b c d micro syndrome. In: Orphanet (Rare Disease Database).
- ^ M. Warburg, O. Sjö, HC Fledelius, SA Pedersen: Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. In: American journal of diseases of children. Vol. 147, No. 12, December 1993, pp. 1309-1312, PMID 8249951 .
- ^ Warburg micro syndrome 1. In: Online Mendelian Inheritance in Man . (English)
- ^ Warburg micro syndrome 2. In: Online Mendelian Inheritance in Man . (English)
- ^ Warburg micro syndrome 3rd In: Online Mendelian Inheritance in Man . (English)
- ^ Warburg micro syndrome 4th In: Online Mendelian Inheritance in Man . (English)
