Gustavson syndrome
| Gustavson syndrome | |
|---|---|
.svg) | |
 | |
| Specialty | Medical genetics |
| Causes | X-linked recessive inheritance |
| Prevention | none |
| Prognosis | bad |
| Frequency | very rare, only 7 case have been reported |
| Deaths | 7 |
Gustavson syndrome, also known as Severe X-linked intellectual disability, Gustavson type, is a rare genetic disorder characterized by severe intellectual disabilities, microcephaly, developmental delay, optic atrophy-induced severe vision impairment/loss, severe hearing loss, spasticity, epilepsy, hypomobility of major joints, facial dysmorphisms (such as large ears and short nose), and premature death (occurring mainly during infancy or early childhood). Some other frequent symptoms include severe postnatal growth retardation, infantile apnea, brain atrophy, dilation of the fourth cerebral ventricle, recurrent upper respiratory tract infections, and a small fontanelle.[1][2][3] This disorder was first discovered in 1993, by Gustavson et al., when they described 7 male children from a 2-generation family, these children had the symptoms mentioned above, and they (Gustavson et al.) came to the conclusion that this case was part of a novel X-linked recessive syndrome.[4] No new cases have been reported since then (1993).[5]
References
- ↑ "Severe X-linked intellectual disability, Gustavson type - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 2022-05-26. Retrieved 2022-05-26.
- ↑ "Severe X-linked intellectual disability, Gustavson type (Concept Id: C0795965) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 2022-05-26. Retrieved 2022-05-26.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Severe X linked intellectual disability, Gustavson type". www.orpha.net. Archived from the original on 2022-05-26. Retrieved 2022-05-26.
- ↑ Gustavson, K. H.; Annerén, G.; Malmgren, H.; Dahl, N.; Ljunggren, C. G.; Bäckman, H. (1993-03-01). "New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death". American Journal of Medical Genetics. 45 (5): 654–658. doi:10.1002/ajmg.1320450527. ISSN 0148-7299. PMID 8456840. Archived from the original on 2023-02-18. Retrieved 2023-07-16.
- ↑ "Archive copy". www.malacards.org. Archived from the original on 2022-05-26. Retrieved 2022-05-26.
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