Congenital Hip Dislocation (CHD)= abnormality of the hip joint, or acetabulum, resulting in the femoral head, or ball, slipping out of the normal position

Infant may exhibit asymmetrical folds of the affected thigh, a difference in leg length, and limited abduction, called a positive Ortolani’s sign

Hirschsprung’s disease = due to an absence of certain nerve cells (called parasympathetic ganglion cells) in a segment of the colon, usually the sigmoid colon

Anencephaly = severe congenital malformation resulting in the absence of the brain or cranial vault (This condition is not compatible with life)

Nucleus of each cell of the human body has 46 chromosomes or 23 pairs of chromosomes

Spina bifida = a neural tube defect (NTD), congenital disorder in which one or more of the vertebrae of the bony spinal column fails to close over the spinal cord, leaving an opening in the column

Myelomeningocele = most serious form of spina bifida, the meninges and a portion of the spinal cord protrude through the opening in the vertebral column, causing neurologic symptoms

Meckel’s Diverticulum = outpouching, or diverticulum, of the ileum, most common malformation of the gastrointestinal (GI) system, occurring in approximately 2% of the population

Ventricular septal defects (hole between right and left ventricles) are the most common heart defects, accounting for approximately 25% of all heart defects

When the chromosomes (one from each parent) pair up during fertilization of the egg, the genes on the chromosomes align and are called alleles

Tay-Sachs disease = primarily affecting families of Eastern Jewish origin, condition is due to a genetic error in lipid metabolism and results in an accumulation of toxins in the brain (the brain tissue degenerates, causing mental and physical disabilities, usually die by age 4)

Chordee = downward curvature of the penis caused by an abnormal fibrous band of tissue

Phenylketonuria (PKU)= an abnormal or faulty metabolism of the phenylalanine protein, can cause mental disability if not treated

PKU blood testing 24-48 hours after birth this testing is mandatory in the United States

Most common type of muscular dystrophy (MD) is Duchenne’s MD, onset is usually between 2-5 years old (2 Questions MD is question & answer)

Sex chromosomes can be evaluated by a buccal smear

X chromosomes called Barr bodies can be visualized when two X chromosomes are present (female), if there is no Barr body, the individual is male)

Dominant genotypes are expressed with a capital letter

Approximately 2% of all newborns have a significant birth defect or congenital anomaly

Achondroplasia = rare genetic disorder characterized by abnormal development of the epiphyseal cartilage, resulting in decreased long bone growth and a type of dwarfism