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NUR 634 - Congenital Disorders Exam 2025 Questions and Answers Single-Gene Disorders - --CORRECT ANSWER--Genetic disorders caused by a single recessive gene or mutation (i.e., sickle cell, thalassemia, neurofibromatosis, hemophilia, Duchene muscular dystrophy, CF, fragile X, polycystic kidney disease, Marfan syndrome, Tay-Sachs disease) Down Syndrome - --CORRECT ANSWER--A condition of intellectual disability and associated physical disorders caused by an extra copy of chromosome 21. Down Syndrome Characteristics - --CORRECT ANSWER--Short stature, brachycephaly, flat nasal bridge, bushfield spots, epicanthal folds with upslanting palpebral fissures, smallmouth/narrow canals, myopia, cataracts, extra skin at nape of neck, atlantoaxial instability, short broad hands/feet, clinodactyly, CHD, at risk for leukemia, hypothyroidism, Alzheimer's Brachycephaly - --CORRECT ANSWER--Short broad head due to premature suture fusion Bushfield Spots - --CORRECT ANSWER--Small, white, or grayish-brown spots appear in a ring around the periphery of the iris. ....COPYRIGHT ©️ 2025 ALL RIGHTS RESERVED...TRUSTED & VERIFIED 1