Genetic and congenital disorders Flashcards
What is trisomy 21 disorder?
Down syndrome- MC chromosomal disorder (1:700)
What are the symptoms of trisomy 21 disorder?
Mental retardation, flat face, cardiac malformations, Alzheimer’s; avg. age of death- 47
What is trisomy 18 disorder?
Edwards syndrome
What are the sx of Edwards syndrome?
Mental retardation, growth delays, failure to thrive, kidney, GI and cardiac malformations (septal defects); rarely survive past 10 years
What is trisomy 13 disorder?
Patau syndrome
What are the sx of patau syndrome?
Mental retardation, microcephaly, cardiac and renal malformations; rarely survive past 1
Which disorder is a fragmentation of chromosome 5 (sporadic mutation)?
Cri du chat
What are the sx of cri du chat?
Cat like cry, dysfunction: cognition, speech, motor, drooling, poor suckling
What chromosomal disorder is klinefelter?
XXY; phenotypically male; MC cause of male sterility
Which disorder is a loss of 1 X chromosome, typically 45X?
Turner syndrome; phenotypically female
What are the sx of Turner syndrome?
Androgynous appearance, short, amenorrhea, neck webbing, cardiovascular malformations
What is the genetic inheritance of fragile X?
Grandfathers to grandsons through daughters, triplet repeat mutation
What are the sx of Fragile X?
Familial mental retardation, elongated face, everted ears,
Macroorchidism (large testes)
What are the 5 need to know lysosomal storage diseases?
Tay-Sachs
Niemann-Pick A,B,C
Gaucher Disease
Mucopolysaccharidosis
which disease is the inability to metabolize GM2 gangliosides leading to cherry red macula, mental retardation and blindness? Common in Ashkenazi Jews
Tay-Sachs disease; lethal by age 3
which disease is caused by acid sphingomyelinase deficiency and fatal by age 3?
niemann-pick type A & B
which Niemann-Pick is associated with defective lipid transport, more common and can have cognitive and motor deficits?
Niemann-Pick type C
which disease is caused by a glucocerebrosidase gene mutation?
Gaucher disease- gaucher cells in liver erlenmeyer flask deformity*
which disease is caused by a group of ECM breakdown enzymes and is characterized with course facial features, clouding of cornea and cardiovascular disease?
Mucopolysaccharoidosis
What are the 3 need to know glycogen storage disease?
Von Gierke
McArdle
Pompe
Which is the most common GSD, is a hepatic type and causes hepatomegaly and hypoglycemia?
Von Gierke disease
Which GSD is a myopathic type causing muscle cramps and hypoglycemia?
McArdle disease
which GSD affects all tissues and causes lethal cardiomyopathy?
Pompe disease
Which metabolic disease causes copper accumulation in tissues, may cause liver failure and has the characteristic Kayser-Fleisher ring around the iris?
Wilson’s disease- confusion, coma, trauma
what does the acronym for perinatal infections stand for? TORCH
Toxoplasmosis Other (treponema pallidum, HIV, plasmodium falciparum) Rubella Cytomegalovirus Herpes
which congenital disorder is a hyaline membrane disease d/t prematurity and insufficient pulmonary surfactant?
NRDS
neonatal respiratory distress syndrome
what is fetal hydrops and what are the 2 types?
abnormal accumulation of fluid in 2 or more fetal compartments; 2 types: immune and non-immune
which hydrops is antibody-induced, from a maternal-fetal blood incompatibility and rare?
immune hydrops
which hydrops is associated with Turner syndrome and has edema associated with chromosomal abnormalities?
non immune hydrops
which disorder is caused by a fibrillin gene mutation causing a defective ECM and has characteristics such as slender long arms, pectus deformation (chest wall) arachnodactyly (spider fingers) hypermobility and dissecting aortic aneurysm?
Marfans Syndrome- fibrillin
which pediatric tumor has characteristic Homer wright (pseudo) rosettes and “blueberry muffin baby”
neuroblastoma- neural crest cells; malignant
what is the most common pediatric eye malignancy with an RB gene mutation and Flexner-Wintersteiner rosette?
retinoblastoma
Homer-Wright (pseudo) rosette
neuroblastoma
Flexor-Wintersteiner rosette
retinoblastoma
what is another name for nephroblastoma?
Wilms tumor
what is the most common tumor in infancy? port wine stain?
hemangioma
what are the 4 seronegative spondyloarthopathies that are positive for HLA-B27?
psoriatic arthritis
enteropathic arthritis
ankylosing spondylitis
Reiters(reactive) arthritis
what is enteropathic arthritis associated with?
ulcerative colitis or shigellosis
