Genetic Syndromes Flashcards
Most common genetic disorder
Down Syndrome
Maternal factors
Intrauterine infections (STORCH), alcohol-related birth defects, Fetal alcohol syndrome
Fetal factors
Birth defects, inborn errors of metabolism, chromosomal abnormalities, CHARGE syndrome
Tay-Sachs
Almost exclusively from people of Jewish heritage
Progressive disorder, results in early death
Mucopolysaccharidosis
Error in gene code for enzyme that affects multiple body systems
Mucopolysaccharidosis 1
Hurler syndrome:
Build-up of abnormal proteins in body; worsens with age
Gibbus = thoracolumbar kyphosis (hallmark feature)
Mucopolysaccharidosis 2
Hunter syndrome:
Less intense version of hurler syndrome
Sanfillipo syndrome
Difficulty with metabolism; bony protrusions and deformities
Krabbe disease
Hypertonicity, contractures; intractable seizures that further developmental delay; brain atrophy –> eventual death
Lesch-Nyan disease
Born normally but with gross motor delay. Hallmark feature is self-mutilation; psychological problem but one that’s based physiologically
PKU
Tremors, seizures, and always involves MR
Cytomegalovirus
CP, microcephaly, seizure disorders
Litter boxes not being changed can breed this virus
Fetal alcohol syndrome
Most common fetal disorder; Can be prevented
Fragile X
Congenital hip dislocation, mild MR
Prader-Willi syndrome
Chromosome 15 inherited from father. Hyperphasia > eats a ton and gets obese