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]
^"Severe X-linked intellectual disability, Gustavson type - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-26.
^RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Severe X linked intellectual disability, Gustavson type". www.orpha.net. Retrieved 2022-05-26.{{cite web}}: CS1 maint: numeric names: authors list (link)
^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.
gustavson, syndrome, also, known, severe, linked, intellectual, disability, gustavson, type, rare, genetic, disorder, characterized, severe, intellectual, disabilities, microcephaly, developmental, delay, optic, atrophy, induced, severe, vision, impairment, lo. 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 Gustavson syndromeSpecialtyMedical geneticsCausesX linked recessive inheritancePreventionnonePrognosisbadFrequencyvery rare only 7 case have been reportedDeaths7References edit Severe X linked intellectual disability Gustavson type About the Disease Genetic and Rare Diseases Information Center rarediseases info nih gov Retrieved 2022 05 26 Severe X linked intellectual disability Gustavson type Concept Id C0795965 MedGen NCBI www ncbi nlm nih gov Retrieved 2022 05 26 RESERVED INSERM US14 ALL RIGHTS Orphanet Severe X linked intellectual disability Gustavson type www orpha net Retrieved 2022 05 26 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link Gustavson K H Anneren G Malmgren H Dahl N Ljunggren C G Backman 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 www malacards org https www malacards org card mental retardation with optic atrophy deafness and seizures Retrieved 2022 05 26 a href Template Cite web html title Template Cite web cite web a Missing or empty title help Retrieved from https en wikipedia org w index php title Gustavson syndrome amp oldid 1165664897, wikipedia, wiki, book, books, library,
