Skip to main content

Table 3 Physical exam findings

From: Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Detected abnormality

Number of affected individuals (%)

Male subjects

Female subjects

Hypo-, oligo- or anodontia (for more details see Table 4)

19 (100)

5 (83)

Lack or absence of eyebrows

19 (100)

5 (83)

Dry skin

19 (100)

1 (17)

Hypo- or atrichia

19 (100)

0 (0)

Sparse eyelashes

17 (89)

0 (0)

Hypoplastic jaws

16 (84)

1 (17)

Dysplastic or protruding ear(s)

16 (84)

0 (0)

Frontal bossing

16 (84)

0 (0)

Eklabium

12 (63)

1 (17)

Eczematous skin

10 (53)

1 (17)

Supernumerary nipple and/or  nipples of different size

5 (26)

0 (0)

Initially retarded psychomotor development (later normal status)

4 (21)

0 (0)

Growth retardation

2 (11)

2 (33)

Conjunctivitis, inflamed lid margins

2 (11)

0 (0)