Stocco dos Santos syndrome

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Stocco dos Santos syndrome
Other names	SDSS, X-linked intellectual disability Stocco dos Santos type [1]
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.

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]

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

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