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Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. [2] This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22 .
29-year-old Caitin Stickels, from Seattle, was born with Schmid-Fraccaro, also known as "Cat Eye Syndrome". The genetic disorder is known to cause an array of issues, the most visible of which ...
Carpal tunnel syndrome; Carpenter syndrome; Cat eye syndrome; Cataract-microcornea syndrome; Catastrophic antiphospholipid syndrome; Catel–Manzke syndrome; Cauda equina syndrome; Caudal regression syndrome; CDK13-related disorder; Celebrity worship syndrome; Central centrifugal cicatricial alopecia; Central cord syndrome; Central nervous ...
This syndrome is caused by mutations in the OCRL gene which encodes an inositol polyphosphate-5-phosphatase. At least one mechanism by which these mutations cause this syndrome is by loss of its Rab-binding domain. [7] [8] This protein is associated with the primary cilia of the retinal pigment epithelial cells, fibroblasts and kidney tubular ...
Individuals with PKS present prenatally or at birth with multiple birth defects.These defects include: brain atrophy, agenesis of the corpus callosum, polymicrogyria of the brain, and/or spot calcifications in the brain's lateral sulcus; deafness and/or blindness; autonomic nervous system dysfunctions such as anhidrosis, hypohidrosis, and/or episodic spells of hyperventilation interspersed ...
Cat eyes are similar to brass knuckles but in the shape of a cat face, with sharp and pointy ears that act like small daggers to stab or gouge. People slip their fingers through the spaces of the ...
Staggering disease is a usually fatal neurologic syndrome in cats, the study noted, and RusV was only recently identified as its cause. Animals show sign of lesions and the same limb impairment.
Pseudoexfoliation syndrome, often abbreviated as PEX [1] and sometimes as PES or PXS, is an aging-related systemic disease manifesting itself primarily in the eyes which is characterized by the accumulation of microscopic granular amyloid-like protein fibers. [2] Its cause is unknown, although there is speculation that there may be a genetic ...