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Congenital Hip Dislocation (CHD)
Abnormality causing femoral head displacement from acetabulum
Ortolani's sign
Asymmetrical thigh folds, leg length difference, limited abduction in infants
Hirschsprung's disease
Absence of parasympathetic ganglion cells in colon
Anencephaly
Severe malformation resulting in brain or cranial vault absence
Chromosomes
46 in each human cell, 23 pairs
Spina bifida
Neural tube defect with spinal column opening
Myelomeningocele
Severe spina bifida form with meninges and spinal cord protrusion
Meckel's Diverticulum
Ileum outpouching, common GI malformation
Ventricular septal defects
Common heart defects with hole between ventricles
Alleles
Genes aligning on paired chromosomes during fertilization
Tay-Sachs disease
Genetic error in lipid metabolism causing brain toxin accumulation
Chordee
Penis downward curvature from abnormal fibrous tissue
Phenylketonuria (PKU)
Faulty phenylalanine metabolism leading to mental disability
PKU blood testing
Mandatory test 24-48 hours post-birth in the US
Duchenne's MD
Most common muscular dystrophy type with onset at 2-5 years
Buccal smear
Method to evaluate sex chromosomes
Barr bodies
Visualized in females with two X chromosomes
Dominant genotypes
Expressed with a capital letter
Birth defects
Approximately 2% of newborns have significant anomalies
Achondroplasia
Rare genetic disorder causing abnormal epiphyseal cartilage development
Note
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