Bijlage 1I

Feature

Frequency (%)

Growth failure and reduced adult height

95 to 100

Failure to thrive during first year of life

50

Endocrinopathies

 Glucose intolerance

15 to 50

 Type 2 diabetes

10

 Type 1 diabetes

?

 Thyreoiditis and hypothyreosis

15 to 30, ann. incidence ~3%

 Hypertension

50

 Android body composition

?

Gastrointestinal and hepatic disorders

 Elevated hepatic enzymes

50 to 80

 Celiac disease

8

 Inflammatory bowel disease

2 to 3

Phentypic charateristics

 Eyes

  Epicanthus

20

  Nearsightedness

20

  Strabismus

15

  Ptosis

10

 Ears

  Infection of middle ear

60

  Hearing defects

30

  Deformity of external ear

15

 Mouth

 Micrognathia (small mandibular bone)

60

  High-arched palate

35

  Abnormal dental development

?

 Neck

  Low posterior hairline

40

  Broad short-appearing neck

40

  Pterygium colli (webbed neck)

25

 Thorax

  Broad chest (shield chest)

30

  Inverted nipples

5

 Skin, nails, and hair

  Increased skin ridge count

30

  Lymphedema of hands and feet

25

  Multiple pigmented naevi

25

  Nail hypoplasia/dystrophy

10

  Vitiligo

5

  Alopecia

5

 Skeleton

  Bone age delay

85

  Decreased bone mineral content

50 to 80

  Cubitus valgus

50

  Short fourth metacarpal

35

  Genu valgum

35

  Congenital hip luxation

20

  Scoliosis

10

  Madelung deformity

5

 Heart

  Bicuspid aortic valve

14 to 34

  Coarctatio aorta

7 to 14

  Aortic dilation/aneurysm

3 to 42

 Kidneys

  Horseshoe kidney

10

  Abnormal positioning or duplication of renal pelvis, ureters or vessels

15

  Renal aplasia

3

 Neurocognitive and psychosocial issues^a

  Emotional immaturity

~40

  Specific (nonverbal) learning disorder

~40

  Psychological and behavioral problems

~25