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Other common facial features include almond-shaped eyes with long lashes, [1] thick eyebrows, [4] a bulbous nose, and a "sandal gap" between the toes. [2] Height is usually normal, and physical abnormalities in general mild or absent. [1] Genitourinary and reproductive abnormalities have been reported.
Acute idiopathic blind spot enlargement syndrome (AIBSE) is a rare eye disease affecting the retina of the eye. It is basically a type of retinopathy which affects females more than males. Currently there is no treatment for this condition, but, it is usually self limiting.
A similar mechanism occurs in Angelman syndrome, except the defective chromosome 15 is from the mother, or two copies are from the father. [5] [6] Prader–Willi syndrome has no cure. [7] Treatment may improve outcomes, especially if carried out early. [7] In newborns, feeding difficulties may be supported with feeding tubes. [3]
Many require lifelong surveillance and various treatments depending on the particular syndrome and presentation. Phakomatoses , also known as neurocutaneous syndromes , are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes.
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal.
Other then sleeping this way, those with EDS do not have floppy eye syndrome. They are able to control their eyelids when they are awake, they can completely shut and open them. Many people with EDS do not have proptosis (large protruding eyes), nerve damage, or any other conditions tend that causes this, other then having Ehlers-Danlos ...
Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia, [1] is an autosomal recessive [2] congenital disorder, linked to mutations (955 gly-> glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the α 2 strand of collagen type XI.
An epicanthic fold or epicanthus [6] is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye. [3] However, variation occurs in the nature of this feature and the possession of "partial epicanthic folds" or "slight epicanthic folds" is noted in the relevant literature.