Stocco dos Santos syndrome explained

Stocco dos Santos syndrome
Synonyms:SDSS, X-linked intellectual disability Stocco dos Santos type [1]
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

Notes and References

  1. Web site: Stocco dos Santos syndrome. 16 June 2022 .
  2. Web site: Orphanet: Syndrome de Cassia Stocco Dos Santos. INSERM US14-- TODOS LOS DERECHOS. RESERVADOS. www.orpha.net.
  3. Web site: Stocco dos Santos syndrome Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . 2022-05-04 . rarediseases.info.nih.gov.
  4. Web site: OMIM Entry - # 300434 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, STOCCO DOS SANTOS TYPE; SDSX. omim.org.
  5. 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 . 10.1007/s00439-005-0072-2 . 0340-6717 . 16249884. 858878 .
  6. 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 . 10.1002/ajmg.a.20021. 12673656 . 32244491 . free .
  7. X-linked syndrome: Mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan]]. R. C. Stocco. dos Santos. O. C. O.. Barretto. K.. Nonoyama. N. H. C.. Castro. O. P.. Ferraz. J.. Walter-Moura. C. C. S.. Vescio. W.. Beçak. May 1, 1991. American Journal of Medical Genetics. 39. 2. 133–136. 10.1002/ajmg.1320390204. 2063914 .

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