Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism.
Two teenaged children born of normal parents in a consanguineous family had evidence of abnormal neurological, endocrine, and ectodermal development. They had mental retardation, hearing loss, ocular dysmetria, hyperreflexia, and ataxia consistent with olivopontocerebellar degeneration. They had hypogonadotrophic hypogonadism and extremely short stature despite normal serum growth hormone and somatomedin-C. There was also hypodontia with peg shaped teeth and mid-face hypoplasia. This syndrome of hypoplasia of mid-lind structures appeared to be inherited as an autosomal recessive trait.
D000293:Adolescent; D002524:Cerebellar Ataxia / Q000235:genetics*; D003241:Consanguinity; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome