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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.
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 ...
ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare multisystem disease caused in humans by a genetic mutation of the SON gene. Common symptoms include developmental delay and often light to severe intellectual disability .
Evidence has shown that newborns' eyes do not work in the same fashion as older children or adults – mainly due to poor coordination of the eyes. Newborn's eyes move in the same direction only about half of the time. [17] The strength of eye muscle control is positively correlated to achieve depth perception. Human eyes are formed in such a ...
Hypertelorism can also be seen in Apert syndrome, Autism spectrum disorder, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, [4] LEOPARD syndrome, Crouzon syndrome, Wolf–Hirschhorn syndrome, Andersen–Tawil syndrome, Waardenburg syndrome and cri du chat syndrome, along with piebaldism, prominent inner third of the eyebrows ...
Neonatal jaundice is a yellowish discoloration of the white part of the eyes and skin in a newborn baby due to high bilirubin levels. [1] Other symptoms may include excess sleepiness or poor feeding. [1] Complications may include seizures, cerebral palsy, or kernicterus. [1] In most of cases there is no specific underlying physiologic disorder. [2]
Many transcription factors for eye development are also involved in the morphogenesis of forebrain, which may explain why ONH is commonly a part of a syndrome involving brain malformations. [ 2 ] ONH impacts all ethnic groups, although in the United States, occurrence is lower in persons of Asian descent.
All newborns should have screening eye examinations, including an evaluation of the red reflexes. The red reflex test is best performed in a darkened room and involves shining a bright direct ophthalmoscope into both eyes simultaneously from a distance of 1– 2 ft. This test can be used for routine ocular screening by nurses, pediatricians ...