XLAG syndrome
| Classification according to ICD-10 | |
|---|---|
| Q04.3 | Other reduction deformities of the brain |
| ICD-10 online (WHO version 2019) | |
The XLAG syndrome , acronym for X -chromosomale L issenzephalie with A normality to the G enitalien , a very rare is congenital disease with the main features of lissencephaly , corpus callosum agenesis and anomaly of the reproductive organs .
It only affects the male gender.
Synonym: Lissencephaly, X-linked 2; LISX2
distribution
The frequency is unknown; around 30 families have been described so far. The inheritance is X-linked .
root cause
The disease is based on mutations in the ARX (aristaless-related homeobox) gene at location Xp21.3.
Other diseases with mutations in the ARX gene are:
Clinical manifestations
Clinical criteria are:
- Lissencephaly with only slight thickening of the cerebral cortex
- Agenesis of the corpus callosum
- severe epilepsy since neonatal age
- Disorders in the hypothalamus regulating body temperature
- intermediate genitals with micropenis and cryptorchidism
history
The first description is from 1999 by the US pediatrician William B. Dobyns and colleagues.
literature
- Ö. M. Özdemir, M. Cağlar, A. Koçyiğit, NO Dündar et al. L: Primary hypogonadism in a case with XLAG syndrome. In: Journal of pediatric endocrinology & metabolism: JPEM. Vol. 25, No. 11-12, 2012, pp. 1161-1163, doi: 10.1515 / jpem-2012-0266 , PMID 23329764 .
Individual evidence
- ↑ a b c XLAG syndrome. In: Orphanet (Rare Disease Database).
- ^ Genetics Home Reference
- ↑ Hydranencephaly with genitalia abnormal. In: Online Mendelian Inheritance in Man . (English)
- ↑ ARX. In: Online Mendelian Inheritance in Man . (English)
- ↑ CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA. In: Online Mendelian Inheritance in Man . (English)
- ^ WB Dobyns, E. Berry-Kravis, NJ Havernick, KR Holden, D. Viskochil: X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. In: American journal of medical genetics. Vol. 86, No. 4, October 1999, pp. 331-337, PMID 10494089 (review).
