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It can be reduced (short, "narrow") in horizontal size by fetal alcohol syndrome [1] and in Williams syndrome.The chromosomal conditions trisomy 9 and trisomy 21 (Down syndrome) can cause the palpebral fissures to be upslanted, [2] whereas Marfan syndrome can cause a downslant. [3]
TCF4 – In 2007, deletions of or point mutations in this gene were identified as the cause of Pitt-Hopkins syndrome. [12] This is the first gene that has been definitively shown to directly cause a clinical phenotype when deleted.
Clinically, if the point at which the helix (curved upper part) of the outer ear meets the cranium is at or below the line connecting the inner canthi of eyes (the bicanthal plane), the ears are considered low set. [2] [1] Low-set ears can be associated with conditions such as: Down syndrome [3] Turner syndrome; Noonan syndrome [4] Patau ...
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
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.
Distinctive ocular features of the ZTTK syndrome are deep-set eyes, down-slanting palpebral fissures and horizontal eyebrows. [1] Children with ZTTK syndrome may present with vision problems including optic atrophy and cerebral visual impairment, resulting in poor visual responses. [1]
diplopia or double vision - more seen in adults (maturity / plasticity of neural pathways) and suppression mechanisms of the brain in sorting out the images from the two eyes. cyclotropia, a cyclotorsional deviation of the eyes (rotation around the visual axis), particularly when the root cause is an oblique muscle paresis causing the hypertropia.
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 ...