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This is an X-linked condition affecting males more than females and is characterized by postnatal growth failure with developmental delays and dysmorphic features characterized by wrinkled forehead, anterior and posterior fontanels, prominent eyes, large down-slanting palpebral fissures, thickened or hooded eyelids, large ears, flared nares, hypoplastic alae nasi, short columella, protruding ...
Other common symptoms include lack of an eyelid fold, an appearance of widely spaced eyes (telecanthus), low nose bridge and ear malformations (including cupping and incomplete development). Rare symptoms include microphthalmos (abnormally small eyes), tear ducts in the wrong location and a high-arched palate. [1]
Males with 48,XXXY are diagnosed anywhere from before birth to adulthood as a result of the range in the severity of symptoms. [2] The age range at diagnosis is likely due to the fact that XXXY is a rare syndrome, and does not cause as extreme phenotypes as other variants of Klinefelter syndrome (such as XXXXY). [2]
AMS is generally characterized by abnormal appearances of the skin, eyes, fingers, genitals, head and face. Infants with AMS will have thin, redundantly wrinkled skin and excessive facial creases; [4] wide-set eyes with absent or severely underdeveloped eyelids and down-turned lower eyelids; and a wide, fish-like mouth that may be fused together at the corners.
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 ...
Signs and symptoms typically seen in this condition include: [2] The eyelid(s) may appear to droop. Droopy eyelids can give the face a false appearance of being fatigued, uninterested or even sinister. The eyelid may not protect the eye as effectively, allowing it to dry. Sagging upper eyelids can partially block the field of view.
A woman has shared details of an extremely rare condition that links her eyelids to her jaw, causing her left eye to mirror what her jaw does. Mandy Bardisbanian, 33, is one of only 300 documented ...
Manual lifting of the eyelid often resolves the problem and the lid is able to stay open. ALO was first clearly described as a distinct entity in 1965 as "a nonparalytic motor abnormality characterized by the patient's difficulty in initiating the act of lid elevation present only momentarily at the start of lid opening."