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Chapter 19 Genetic and Developmental Diseases and Disorders

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1 Chapter 19 Genetic and Developmental Diseases and Disorders

2 Anatomy and Physiology
Cell nucleus: 46 chromosomes or 23 pairs Most somatic cells have ability to reproduce through mitosis

3 Anatomy and Physiology
Approximately 2 percent of newborns are born with congenital anomalies Causes 20 percent genetic 5 percent chromosomal 10 percent environmental

4 Diagnostic Tests Ultrasound of fetus: detects malformations
Amniotic fluid: reveals genetic and chromosomal disorders Maternal blood: reveals abnormal fetal substances

5 Muscular Dystrophy Genetic degeneration of muscles
Most common type is Duchenne’s MD Onset between two and five years of age No cure Treatment: physical therapy, orthopedic devices, exercise

6 Congenital Hip Dislocation
Abnormal hip joint resulting in femoral head slipping out of normal position Symptoms Infant exhibits asymmetrical folds of affected thigh Difference in leg length Limited abduction

7 Congenital Hip Dislocation
Treatment Closed reduction Maintenance of normal position by use of a splint or cast for 2 to 3 months Surgery in older children

8 Osteogenesis Imperfecta
Inherited condition of abnormally brittle bones leading to fractures No cure

9 Hydrocephalus Abnormal accumulation of cerebrospinal fluid in brain due to obstruction Symptoms Enlargement of infant head and bulging eyes Tight scalp and prominent head veins Shrill high-pitched cry and unable to lift head Mental retardation

10 Hydrocephalus Treatment
Surgery to place shunt from brain to peritoneal cavity to drain excess fluid

11 Cerebral Palsy Congenital bilateral paralysis Symptoms
Inadequate blood or oxygen supply to brain during fetal development Symptoms Hyperactive reflexes and muscle contraction Muscle weakness and “scissors gait”

12 Cerebral Palsy No cure Treatment Physical and speech therapy
Orthopedic cast, braces, and surgery Anticonvulsants and muscle relaxants

13 Spina Bifida Congenital disorder Forms of spina bifida
Opening in spinal column Forms of spina bifida Spina bifida occulta Meningocele Myelomengiocele

14 Cardiovascular Defects may be small or quite large
Early diagnosis and surgery improved dramatically, reducing mortality rate

15 Cardiovascular Types of defects Atrial and Ventricular Septal Defects
Patent Ductus Arteriosus Coarctation of the Aorta Tetralogy of Fallot

16 Cardiovascular Types of defects Right ventricle hypertrophy
Ventricle septal defect Abnormal placement of aorta

17 Digestive Types of digestive malformations
Meckel’s Diverticulum: outpouching of diverticulum of ileum Esophageal atresia: abnormal esophagus Congenital diaphragmatic hernia Imperforate anus

18 Developmental Malformations
Cleft Lip - formerly called “harelip” One or more splits in upper lip Affects boys more frequently girls Treatment is surgical repair

19 Developmental Malformations
Cleft Palate More serious than cleft lip Involves roof of mouth Treatment is surgical

20 Pyloric Stenosis Narrowing of lower end of stomach
Common anomaly of digestive tract Symptom: projectile vomiting Treatment: pylorotomy

21 Hirschsprung’s Disease
Absence of nerves in segment of colon; usually sigmoid colon Symptoms Chronic constipation Abdominal distention

22 Hirschsprung’s Disease
Treatment Surgical removal of the affected segment Temporary colostomy may be necessary to allow adequate healing of colon

23 Phenylketonuria Genetic disorder: faulty metabolism of the protein phenylalanine Diagnosis PKU blood testing 72 hours after birth Testing is mandatory in United States Lack of treatment: mental retardation

24 Hypospadias Abnormal congenital opening of male urinary meatus
Opens under surface of penis Mild cases can be left untreated Surgical repair is treatment of choice for severe cases

25 Wilm’s Tumor Most common solid tumor affecting children and infants
Highly malignant and usually replaces one whole kidney Treatment involves chemotherapy and surgery

26 Turner’s Syndrome Chromosomal disorder: females have only one X chromosome rather than XX Ovaries are either abnormal or absent Treatment: reduce growth with hormones and estrogen therapy

27 Klinefelter’s Syndrome
Chromosomal disorder: affected males have extra X chromosome Symptoms Not diagnosed until puberty due to abnormal male sexual development Small penis and testes

28 Klinefelter’s Syndrome
Symptoms Enlarged breasts Absent or scant body hair Impaired intelligence Treatment Testosterone therapy

29 Cystic Fibrosis Hereditary disorder: affects exocrine glands causing viscous secretions Treatment Postural drainage Chest clapping Antibiotics, bronchodilators, expectorants, and oxygen

30 Down Syndrome Formerly called “mongolism” Symptoms
Mild to severe mental retardation Flat nasal bridge, low-set ears, slanted eyes Epicanthus Thick protruding tongue

31 Down Syndrome Abnormal extremities Organ defects No cure

32 Failure to Thrive Lack of physical growth and development in infant or child Symptoms Weight loss or failure to gain weight, anorexia Irritability Vomiting, diarrhea, weak, “rag doll” limpness

33 Failure to Thrive Symptoms Unresponsiveness to affection
Wary of parents or caregivers Avoid eye contact Stiffen when cuddled

34 Failure to Thrive Treatment
Teaching mothering and nurturing behaviors to mother/parents Promotion of self-esteem

35 Fetal Alcohol Syndrome
Birth defects to child due to mother consuming alcohol during pregnancy Symptoms Varying degrees of mental retardation Decreased physical development

36 Fetal Alcohol Syndrome
Symptoms Irritability in infants Hyperactivity in older children Microcephaly Increased incidence of ventricular septal defects

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