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Brushfield spots tend to be obscured by pigmentation of the anterior border layer of the iris in patients with darker irides. Hence, they are much more likely to be observed in children with lightly pigmented eyes. Brushfield spots are more commonly found in Down syndrome patients of European descent than similarly affected children of Asian ...
Also known as Shah–Waardenburg syndrome, or Waardenburg–Shah syndrome, type 4 has most of the same features as type 2 (i.e. no telecanthus, or apparent wider eye gap), but with the addition of Hirschsprung's disease, which is a congenital lack of nerves in the intestines leading to bowel dysfunction.
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.
Monosomy-G syndrome; Trisomy 13 (Patau's syndrome, D-syndrome) Trisomy 18 (Edwards' syndrome, E-syndrome) Trisomy 21 (Down syndrome) Deletion of long arm of chromosome 18; Deletion of chromosome 18; Ciliopathic genetic syndromes—A number of widely variant genetic disorders with occular phenotypes have been identified with genotypical ciliopathy.
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 ...
For instance, the chance of conceiving a child with Down syndrome is 1 in 350 at age 35, and it increases to 1 in 30 by age 45. Studies have also found that likelihood of autism increases with ...
Microphthalmia (Greek: μικρός, mikros, 'small', ὀφθαλμός, ophthalmos, 'eye'), also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations.