This document provides guidance on evaluating and managing short stature in children. It discusses evaluating a short child by taking a history including birth details, illnesses, nutrition, and parental heights. Physical examination involves measuring height, weight, body proportions, and examining parents. Growth charts are used to assess if a child's height is below standard deviations. Potential causes of short stature discussed include familial, constitutional growth delay, chronic diseases, psychosocial, chromosomal, genetic syndromes, and endocrine disorders. Initial investigations include blood tests and bone age x-ray. Advanced tests may include skeletal survey, karyotype, growth hormone stimulation. Management depends on the identified cause and may include counseling, disease treatment, hormone therapy.

1. A Practical Approach to
Short Stature in
Children
Prof. Imran Iqbal
Prof of Paediatrics (2003-2018)
Prof of Pediatrics Emeritus, CHICH
Multan, Pakistan

2. In the name of Our Creator
Allah,
the most Gracious,
the most Merciful

3. Physiology of Growth

4. FACTORS influencing GROWTH

5. Case scenario
• A 12 year old child presents with shortness
• Age 12 yr
• Ht 129 cm
• Wt 19 kg
How will you evaluate this child ?

6. Evaluation of the Short Child - History
• Birth – length, weight
• Diseases - Symptoms, Diagnosis
• Nutritional intake
• Parents, family stature

7. Evaluation of the Short Child
Examination
• Height
• Weight
• Body proportions (trunk, limbs)
• Complete Physical Exam
• Parents’ Height measurements

8. How to measure Height
• Without footwear
• Heels & back touching the wall
• Looking straight ahead
• A right angled mark touches the
head
• Record to last 0.1 cm

9. Growth Charts
• WHO – www.who.int
• CDC, USA – www.cdc.gov
• Growth Charts are made on the basis of:
 Percentiles
 Standard Deviations

10. WHO Growth Charts

11. CDC Growth Charts

12. CDC Growth Charts

13. CHICH Growth Charts

14. Growth Chart – single measurement

15. Growth Chart – serial measurements

16. Is this Child Really Short ?
• < - 2 SD
• Shorter than two standard deviations below
the mean (2.5 percentile) for age and sex
• consider Height of Parents
• analysis of the child’s height in the context of
the expected genetic potential

17. Short Child
• < - 2 SD
• Shorter than two
standard deviations
below the mean (2.5
percentile) for age and
sex
• analysis of the child’s
height in the context of
the expected genetic
potential (in relation to
Height of Parents)

18. Significantly Short Child
• < - 3 SD
• Shorter than three standard
deviations below the mean
(0.4 percentile) for age and sex
• Needs urgent investigations

19. Significantly Short Child
• < - 3 SD
• Shorter than three
standard deviations
below the mean
(0.4 percentile) for
age and sex
• Needs urgent
investigations

20. Causes of Short Stature
• Familial Short Stature
• Constitutional Growth Delay
• Chronic Diseases
• Psychosocial dwarfism
• Chromosomal disorders
• Genetic diseases / Syndromes
• Endocrine Disorders

21. Causes of Short Stature
• Familial Short Stature (parents Ht less than average)
• Constitutional Growth Delay (growth picks up near
puberty)
• Chronic Diseases (which last years)
• Psychosocial dwarfism (parental loss or separation)
• Chromosomal disorders (Down Syndrome & others)
• Genetic diseases / Syndromes (genetic disorders)
• Endocrine Disorders (Thyroid Hormones or Growth
Hormone deficiency)

22. Familial Short Stature

23. Mid Parental Height and Range
• Mid Parental Height is the Average Height of the
Parents and the range which the child is likely to
attain on his Genetic basis
• Midparental Height in boys:(MH+FH+12)/2
• Midparental Height in Girls: (MH+FH-12)/2
• Midparentantal Height range is 10 cm above and
below the Midparental Height

24. Familial Short Stature

25. Constitutional Growth Delay

26. Constitutional Growth Delay

27. Chronic diseases causing
Short Stature

29. Common Diseases causing Short Stature
• Repeated Infections
• Thallasemia
• Congenital Cyanotic Heart Disease
• Chronic Liver disease
• Chronic kidney disease
• Celiac disease
• Diabetes mellitus
• Glycogen storage disease

30. Repeated / Chronic Tonsillitis

31. Thalassemia major

32. Congenital Cyanotic Heart Disease

33. Chronic Liver Disease
• Abdominal distention
• Ascites
• Muscle atrophy

34. Celiac disease
• Gluten enteropathy
• Chronic diarrhea
• Abdominal distention
• Muscle atrophy

35. Glycogen Storage Disease
• Short stature
• Hepatomgaly
• Hypoglycemia
• Doll face
• Glucose 6 phosphatase
enzyme deficiency

36. Chromosomal Disorders

37. Down syndrome (Trisomy 21)
• Short height
• Delayed development
• Intellectual handicap
• Hypotonia
• Upward outward
slanting eyes
• Open mouth
• Social behavior

38. Turner syndrome
• 45 XO
• 1 / 2500 births
• Females
• Webbed neck
• Short stature
• Amenorrhoea

39. Turner syndrome
• 45 XO
• 1 / 2500 births
• Females
• Wide nipples
• Edema of hands
• Amenorrhoea

40. Genetic diseases / Syndromes

41. Syndrome
A syndrome is a set of
medical signs and symptoms
that are correlated with each other
and, often,
with a specific disease.

42. Common DYSMORPHIC clinical features
seen in Syndromes
• Microcephaly
• Hypertelorism, slanting eyes
• Depressed bridge of nose
• Malformed, low set ears
• Small mandible, Short neck
• Cardiac malformations
• Long, short limbs
• Polydactyly, palmer creases
• Ambiguus genitalia
• Undescended testes

43. Noonan Syndrome
• Short stature
• Antimongoloid
slanting eyes
• Low IQ

44. Seckel dwarf (age 16 years)
• Failure of growth
• Very very short
• Beaked nose
• Thin body

45. Achondroplasia
• Skeletal dysplasia
• Very short height
• Large head with frontal
bossing
• Short proximal
segments of limbs
(Rhizomelic shortening)

46. Endocrine Disorders

47. Endocrine Disorders
• Delayed growth after 2
years of age
• Child significantly short
child from early years
• Bone age less than
chronological age

48. Hypothyroidism

49. Growth Hormone Deficiency
• Significantly short from
birth
• Round face
• Prominent
subcutaneous fat
• Delayed bone age

50. Investigations for Short Child

51. Causes of Short Stature
• Familial Short Stature
• Constitutional Growth Delay
• Chronic Diseases
• Psychosocial dwarfism
• Chromosomal disorders
• Genetic diseases / Syndromes
• Endocrine Disorders

52. Initial Investigations
• CBC, ESR, CRP
• Urine Examination
• LFT, RFT
• T3, T4, TSH
• Anti Transglutaminase IgA
• Bone age (Xray wrist)
• Height of Mother and Father
• Height Velocity (increase in Ht in one year)

53. Bone Age in Causes of Short Stature
• Familial Short Stature Bone age - N
• Constitutional Growth Delay Bone age - D
• Chronic Diseases Bone age - D
• Psychosocial dwarfism Bone age - D
• Chromosomal disorders Bone age - N
• Genetic diseases/Syndrome Bone age - N
• Endocrine Disorders Bone age - D

54. Advanced Investigations
(As needed according to presentation)
• Skeletal survey
• Karyotype
• Growth Hormone (insulin stimulation test)
• IGF – 1
• Others as needed

55. Management of Short Child

56. Management of Short Stature Child
• Familial Short Stature = Counseling
• Constitutional Growth Delay= Counseling / androgens
• Chronic Diseases = Optimal Disease Management
• Psychosocial dwarfism = Psycological support
• Chromosomal disorders = Counseling
• Genetic diseases / Syndromes = Counseling
• Endocrine Disorders = Hormone therapy

57. Take Home Message
• Measure Child Height
• Plot on Growth Charts
• Find Height Percentile
• Measure Parents Height
• Calculate Mid-Parental Height
• Find whether Child Ht corresponds to parents
• Initial investigations and further if needed
• Patient counselling and management according
to cause

58. Medical Ethics

59. Thankyou