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Many females had abnormal teeth and mild hypohidrosis.
517571] [Full Text]" pmid="517571"Pinheiro and Freire-Maia (1979) suggested that the syndrome had 2 forms: a 'major' form in males, and a 'minor' form in females.
Mac Dermot and Hulten (1990) reported follow-up on the girl with the X;9 translocation and confirmed the diagnosis of hypohidrotic ectodermal dysplasia with moderately severe mental retardation.
They estimated that mothers of affected males showed 66% penetrance, daughters of carriers showed 81% penetrance, and daughters of affected males showed 49% penetrance. (1980) reported the clinical findings in 23 affected males from 15 families as well as 21 mothers.
All affected males had the characteristic clinical findings of HED, including very sparse hair, small, misshapen, and missing teeth, diminished sweating with a history of frequent hospitalization for high fevers during infancy, and symptoms of atrophic rhinitis and decreased salivary secretions. Seven other male family members were reported to be affected, including 6 who died before 1 year of age with high fevers.
Males had a characteristic facies, with frontal bossing, maxillary hypoplasia, 'saddle' nose, prominent lips, and linear wrinkles around the eyes. Hair was fine, dry, brittle, and sparse, and skin was thin, glossy, smooth, and dry with hypohidrosis.
Females had sparse, thin scalp hair and mosaic patchy distribution of body hair.
The finding was thought to be the basis for the observed increase in susceptibility to respiratory infections.
Mucous glands were also absent in the upper esophagus and hypoplastic in the colon.
Two affected males had total anodontia, several had missing teeth bilaterally, and most had significantly smaller upper incisors, upper and lower first molars, and lower second molars than controls.
Seventy-three percent of obligate heterozygous females had 1 or more congenitally missing teeth, and most had smaller teeth, One daughter had severe thinning of the hair and several mothers were known to wear wigs.
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