10: Characteristics of Common Disorders

Question 1

Neurologic and cutaneous abnormalities include myoclonic seizures, hypotonia, dermatitis, alopecia, and conjunctivitis.

Answer 1

Biotinidase deficiency

Question 2

Trisomy 21

Answer 2

Down syndrome

Question 3

Fetal edema, low hairline, increased carrying angle of arms, wide-spaced nipples, horseshoe kidney.

Answer 3

Turner syndrome

Question 4

Diarrhea, vomiting, enlarged liver, hypoglycemia, cataracts.

Answer 4

Galactosemia

Question 5

Later findings include hearing loss, optic atrophy, developmental abnormalities, and immunologic abnormalities. Ketoacidosis and organic acidemia can lead to coma and death if untreated.

Answer 5

Biotinidase deficiency

Question 6

Gene defect on the long arm of the seventh chromosome results in disturbance of electrolyte composition of saliva, sweat, pulmonary, and pancreatic secretions as a result of diminished epithelial permeability to chloride; NBGS detects increased blood levels of immunoreactive trypsinogen (elevated trypsinogen resulting from obstructed pancreatic ducts).

Answer 6

Cystic fibrosis

Question 7

47, XXY

Answer 7

Klinefelter syndrome

Question 8

Edward syndrome.

Answer 8

Trisomy 18

Question 9

Splenomegaly, frequent infections, and pain and swelling of hands and feet.

Answer 9

Sickle cell

Question 10

Underdeveloped philtrum, thin upper lip, flat midface, short or upturned nose, low nasal bridge, ear anomalies, short palpebral fissures, ptosis, micrognathia, epicanthal folds.

Answer 10

Fetal alcohol spectrum disorder

Question 11

More than 50% have cardiac defects and only about 5% survive the 1st year of life.

Answer 11

Trisomy 18

Question 12

Ambiguous genitalia.

Answer 12

Congenital adrenal hyperplasia

Question 13

IUGR, postnatal growth retardation, microcephaly, structural brain abnormalities, developmental delays, retardation, poor motor control, attention deficits, hyperactivity, muscle weakness.

Answer 13

Fetal alcohol spectrum disorder

Question 14

Mental retardation, growth retardation, capillary hemangiomas, persistent fetal hemoglobin, microcephaly, brain malformations, cleft lip, cleft palate, apparent deafness, cardiac septal defects, polycystic kidneys, polydactyly, omphalocele.

Answer 14

Trisomy 13

Question 15

Mean IQ in the normal range, but may have trouble with ADHD or language-processing problems.

Answer 15

Klinefelter syndrome

Question 16

2 or more of the following: 6 or more cafe au lait spots 5 mm+. Axillary or inguinal freckling. Lisch nodules on the iris in 10+ years old. Distinctive osseous lesion. Optic gliomas. Bony pseudoarthrosis, esp of the tibia. 1st degree relative with diagnosis or s/s.

Answer 16

Neurofibromatosis. Also can include: Skin neurofibromas or plexiform neurofibroma of the subcutaneous tissue.

Question 17

Classical findings include: atypical facies, hypertelorism, exophthalmos, short nose, enlarged protruding tongue, large fontanelles, and umbilical hernias.

Answer 17

Congenital hypothyroidism

Question 18

Small ears, Brushfield spots, short/wide hands, palmar simian creases, epicanthal folds, wide gap between 1st and 2nd toes, growth retardation, mental retardation.

Answer 18

Down syndrome

Question 19

Biochemical effects begin immediately, with symptoms apparent at about 3 months of age (vomiting, feeding difficulties, irritability, infantile eczema, hypopigmentation of skin and hair, urine with “musty odor” caused by excretion of phenylacetic acid).

Answer 19

PKU

Question 20

Short stature, absence of ovarian function, webbed neck, broad chest, congenital heart disease, urinary tract anomalies, low hairline. Affects females.

Answer 20

Turner syndrome

Question 21

IUGR. Vomiting and diarrhea with feeds. Hypoglycemia. Gram negative sepsis (E. coli). Hepatic damage. Cataracts.

Answer 21

Galactosemia

Question 22

Macro-orchidism, ADHD, mental retardation, seizures, autistic behavior.

Answer 22

Fragile X syndrome

Question 23

Symptoms usually evident in the first 48–72 hours of life and include lethargy, poor feeding, vomiting, weight loss, abnormal tone, seizures, and loss of reflexes.

Answer 23

Maple syrup urine disease

Question 24

45, XO

Answer 24

Turner syndrome

Question 25

Enlarged protruding tongue, short nose and umbilical hernia.

Answer 25

Congenital hypothyroidism

Question 26

Hyponatremia, dehydration, cardiac arrhythmia, adrenal crisis.

Answer 26

Congenital adrenal hyperplasia

Question 27

50% die in the 1st month of life and 95% by 1st year.

Answer 27

Trisomy 13

Question 28

Musty smell to urine and eczema.

Answer 28

PKU

Question 29

Male with decreased testicular size, long limbs and decreased muscle tone.

Answer 29

Klinefelter syndrome

Question 30

Increased susceptibility to infection.

Answer 30

Cystic fibrosis

Sickle cell

Question 31

48, XXXY

Answer 31

Klinefelter syndrome

Question 32

Potential for scoliosis, deafness, and central apnea.

Answer 32

Trisomy 18

Question 33

5th finger clinodactyly, tremor, gynecomastia, decreased body hair.

Answer 33

Klinefelter syndrome

Question 34

X-linked disorder that is the most common inherited cause of mental retardation.

Answer 34

Fragile X syndrome

Question 35

Severe ketoacidosis leading to sweet smelling urine.

Answer 35

Maple syrup urine disease

Question 36

49, XXXXY

Answer 36

Klinefelter syndrome

Question 37

With fasting or stress: Hypotonic, muscle weakness, seizures, hypoglycemia.

Answer 37

MCAD

Question 38

Males: long face, large ears, prominent forehead and jaw, high-arched palate, macrocephaly, single palmar crease.

Answer 38

Fragile X syndrome

Question 39

47, XXX

Answer 39

Turner syndrome

Question 40

Difficulties with arithmetic. Social development often impaired d/t not understanding nonverbal communication.

Answer 40

Turner syndrome

Question 41

Decreased adipose tissue, infant irritability, poor coordination.

Answer 41

Fetal alcohol syndrome

Question 42

Brachycephaly, hypotonia, hyperlaxity, oblique palpebral fissures, protruding tongue, flat nasal bridge.

Answer 42

Down syndrome

Question 43

Cardiovascular problems, delayed growth, short stature, low posterior hairline, shield chest, short or webbed neck. Affects both sexes.

Answer 43

Noonan syndrome. Different CV effects than Turner syndrome.

Question 44

Meconium ileus at birth may indicate this disease.

Answer 44

Cystic fibrosis

Question 45

Patau syndrome.

Answer 45

Trisomy 13