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