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
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
This condition is thought to be caused by mutations in chromosome Xp11.22, and thought to be X-linked recessive.[4][5][6]
Etiology
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
- ^ "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.