Stocco dos Santos syndrome
| Stocco dos Santos syndrome | |
|---|---|
| Other names | SDSS, X-linked intellectual disability Stocco dos Santos type [1] |
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| Specialty | Medical genetics |
| Symptoms | Ocular, muscular and skeletal differences |
| Frequency | very rare |
Stocco dos Santos syndrome is an extremely rare multi-systemic genetic disorder which is present from birth. It is characterized by heart, skeletal, muscular abnormalities with accompanying intellectual disabilities.
Presentation
[edit]People with Stocco dos Santos syndrome often show the following symptoms: dolichocephaly, cranial asymmetry, talipes equinovarus, camptodactyly, Hypoplasia, anophthalmia, Buphthalmos, progressive retinal detachment, aniridia, tricuspid valve prolapse, mitral and tricuspid insufficiency,[2] hyperactivity, intellectual disability, low birth weight and short stature.[3]
Causes
[edit]This condition is thought to be caused by mutations in chromosome Xp11.22, and thought to be X-linked recessive.[4][5][6]
Etiology
[edit]On May 1, 1991, a novel X-linked genetic disorder was discovered through a Brazilian family, when severe intellectual disabilities, bilateral congenital hip dislocation, and low height were found in four male first-cousins, with three out of the four cousins carrying a new variant of glucose-6-phosphate dehydrogenase.[7] There haven't been any more reported cases since 1992
References
[edit]- ^ "Stocco dos Santos syndrome". 16 June 2022.
- ^ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Syndrome de Cassia Stocco Dos Santos". www.orpha.net.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Stocco dos Santos syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2022-05-04.
- ^ "OMIM Entry - # 300434 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, STOCCO DOS SANTOS TYPE; SDSX". omim.org.
- ^ Hagens, Olivier; Dubos, Aline; Abidi, Fatima; Barbi, Gotthold; Van Zutven, Laura; Hoeltzenbein, Maria; Tommerup, Niels; Moraine, Claude; Fryns, Jean-Pierre; Chelly, Jamel; van Bokhoven, Hans (January 2006). "Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation". Human Genetics. 118 (5): 578–590. doi:10.1007/s00439-005-0072-2. ISSN 0340-6717. PMID 16249884. S2CID 858878.
- ^ Stocco, Rita; Castro, Nelson; Holmes, Lillia; Beçak, Willy; Tackels-Horne, Darci; Lindsey, Charles; Lubs, Herbert; Stevenson, Roger; Schwartz, Charles (2003-04-01). "Stocco dos Santos X-linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3-Xq21.3". American Journal of Medical Genetics. Part A. 118A (3): 255–9. doi:10.1002/ajmg.a.20021. PMID 12673656. S2CID 32244491.
- ^ dos Santos, R. C. Stocco; Barretto, O. C. O.; Nonoyama, K.; Castro, N. H. C.; Ferraz, O. P.; Walter-Moura, J.; Vescio, C. C. S.; Beçak, W. (May 1, 1991). "X-linked syndrome: Mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan]". American Journal of Medical Genetics. 39 (2): 133–136. doi:10.1002/ajmg.1320390204. PMID 2063914.