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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.
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.
Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), also called blepharophimosis syndrome, which is an autosomal dominant condition characterised by blepharophimosis, ptosis (upper eyelid drooping), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid) and telecanthus (widening of the distance between the inner ...
The treatment of each neurocutaneous syndrome is unique. For some neurocutaneous syndromes such as neurofibromatosis 1 and tuberous sclerosis complex there are guidelines with recommendations for surveillance and management. [78] [79] For less common syndromes such guidelines are not yet available. Surveillance is a necessity for many ...
Frontonasal dysplasia (FND) is a congenital malformation of the midface. [1] For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism (an increased distance between the eyes), a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele (an opening of the skull ...
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]
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.
The thigh and upper arm bones are wider than usual resulting in a dumbbell-shape while the bones of the vertebrae may be abnormal. [5] Typical abnormal facial features can be wide-set protruding eyes (hypertelorism), a small and upturned nose with a flat bridge, small jaw (micrognathia) and a cleft palate.