10: Characteristics of Common Disorders Flashcards
Neurologic and cutaneous abnormalities include myoclonic seizures, hypotonia, dermatitis, alopecia, and conjunctivitis.
Biotinidase deficiency
Trisomy 21
Down syndrome
Fetal edema, low hairline, increased carrying angle of arms, wide-spaced nipples, horseshoe kidney.
Turner syndrome
Diarrhea, vomiting, enlarged liver, hypoglycemia, cataracts.
Galactosemia
Later findings include hearing loss, optic atrophy, developmental abnormalities, and immunologic abnormalities. Ketoacidosis and organic acidemia can lead to coma and death if untreated.
Biotinidase deficiency
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).
Cystic fibrosis
47, XXY
Klinefelter syndrome
Edward syndrome.
Trisomy 18
Splenomegaly, frequent infections, and pain and swelling of hands and feet.
Sickle cell
Underdeveloped philtrum, thin upper lip, flat midface, short or upturned nose, low nasal bridge, ear anomalies, short palpebral fissures, ptosis, micrognathia, epicanthal folds.
Fetal alcohol spectrum disorder
More than 50% have cardiac defects and only about 5% survive the 1st year of life.
Trisomy 18
Ambiguous genitalia.
Congenital adrenal hyperplasia
IUGR, postnatal growth retardation, microcephaly, structural brain abnormalities, developmental delays, retardation, poor motor control, attention deficits, hyperactivity, muscle weakness.
Fetal alcohol spectrum disorder
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.
Trisomy 13
Mean IQ in the normal range, but may have trouble with ADHD or language-processing problems.
Klinefelter syndrome
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.
Neurofibromatosis. Also can include: Skin neurofibromas or plexiform neurofibroma of the subcutaneous tissue.
Classical findings include: atypical facies, hypertelorism, exophthalmos, short nose, enlarged protruding tongue, large fontanelles, and umbilical hernias.
Congenital hypothyroidism
Small ears, Brushfield spots, short/wide hands, palmar simian creases, epicanthal folds, wide gap between 1st and 2nd toes, growth retardation, mental retardation.
Down syndrome
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).
PKU
Short stature, absence of ovarian function, webbed neck, broad chest, congenital heart disease, urinary tract anomalies, low hairline. Affects females.
Turner syndrome
IUGR. Vomiting and diarrhea with feeds. Hypoglycemia. Gram negative sepsis (E. coli). Hepatic damage. Cataracts.
Galactosemia
Macro-orchidism, ADHD, mental retardation, seizures, autistic behavior.
Fragile X syndrome
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.
Maple syrup urine disease
45, XO
Turner syndrome
