A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism.
We describe a large, three generation kindred in which 16 individuals were affected with alopecia, hyposmia or anosmia, conductive deafness associated with protruding ears, microtia, and/or atresia of the external auditory canal, hypogonadotropic hypogonadism due to LH/FSH deficiency, and a greater than normal tendency to dental caries. Variable manifestations include mild facial asymmetry, mental retardation, congenital heart defect, and cleft palate. This seems to be a previously undescribed pleiotropic autosomal dominant trait with variable expressivity. The manifestations can be explained on the basis of involvement of the ectoderm and neuroectoderm of the first and second branchial arches, of Rathke's pouch, and of the diencephalon.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000368:Aged; D000505:Alopecia / Q000196:embryology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000196:embryology* / Q000235:genetics*; D004475:Ectoderm; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000196:embryology / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D000857:Olfaction Disorders / Q000196:embryology / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome