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The key signs of fetal alcohol syndrome (FAS) required for diagnosis include: Growth deficiency or failure to thrive: slow fetal growth low birth weight or height, small head circumference (microcephaly) [14] [a] Congenital malformations of lips: short palpebral fissure lengths, smooth philtrum, and thin upper lip. [15] [b]
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]
Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal palpebral fissures (eyelid openings) are shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus.
Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.
Fetal alcohol syndrome (FAS) has been associated with FTT, and can present with characteristic findings including microcephaly, short palpebral fissures, a smooth philtrum and a thin vermillion border. [19]
FAS is characterized by slower physical growth, distinct facial abnormalities including smooth philtrum, thin vermilion, and short palpebral fissures, neurological deficits, or smaller head circumference.
Fetal alcohol syndrome is the most common preventable cause of intellectual disability in the United States. Symptoms include a thin upper lip, short palpebral fissures, smooth philtrum, microcephaly, and other facial dysmorphic features.
Dalrymple's sign is a widened palpebral (eyelid) opening, or eyelid spasm, seen in thyrotoxicosis (as seen in Graves' disease, exophthalmic goitre and other hyperthyroid conditions), causing abnormal wideness of the palpebral fissure.