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
Angelmen syndrome
Chromosome 15 inherited from mother. Mild MR, high steppage gait during ambulation
Rett syndrome
Child develops normally until 6 y/o where they plateau. Rapid motor and language regression. Stereotypic hand-wringing and teeth grinding. Also apraxia and seizures
Williams sydrome
Elfin facial features. Slow and abnormal growth. Hypotonic and grow into normal tone
Genetic inheritance patterns
Autosomal, dominant, recessive, x-linked
Autosomal inheritance
Only need to have gene from one parent to inherit disease
Recessive inheritance
Need 2 copies of genes (one from each parent) to inherit disease
Dominant inheritance
One gene from one parent needed to inherit disease
X-linked
Involve the X chromosome, if it’s inherited as damaged or altered
Down Syndrome
“Trisome 21”
When person has 3 instead of 2 copies of the 21st chromosome
Down syndrome symptoms
AAI, cognitive delay, hypotonia, small stature, single deep crease on the palm of each hand, gross motor development delays, poor language development
Dysmorphology
Malformation
Dysplasia
Deformation
Syndrome
Malformation
Structural defect in organ or body part (cleft lip)
Dysplasia
Abnormal organization of cells in tissue (limb defect)
Deformation
Alteration in form or shape of normal body part (plagiocephaly)
Syndrome
Pattern of multiple malformations due to a single cause (Down Syndrome)
Lissencephaly
Absence of cerebral sulci
MELAS
Progressive neurodegenerative disorder Mitochondrial Encephalomyopathy Lactic Acidosis Stroke-like symptoms
