<unk>  is inherited as an autosomal recessive genetic trait. In a study by Howell et al. patients were located and studied by means of complete histories and physical examinations, analyses of serum trace metals, ceruloplasmin concentration, urine and serum amino acids, and routine metabolic urine screens. In addition, serum and urine luteinizing hormone (LH) and follicle-stimulating hormone (FSH) values were determined, and were interpreted in conjunction with total plasma estrogen, estradiol, and testosterone levels. Close examination demonstrated the scalp<unk> s were very<unk> , coarse, wiry in texture, and broke off quite easily with mechanical trauma such as combing and brushing. Some<unk> s could be visualized in their follicles, which were broken off at the skin line. Most patients had accompanying hyperkeratosis (thickening of the skin) of moderate degree on exposed surfaces. Maxillary hypoplasia (midfacial retrusion) was significant in many patients. The<unk> , short<unk> , reduced eyelashes, crowded teeth, and dull appearance created a characteristic facial appearance. Post-pubertal patients had development of secondary sexual characteristics consistent with their age, except for sparse pubic escutcheons. All cases studied demonstrated some degree of mental deficiency; I.Q.'s ranged between 50 and 60. A deficiency in eye–hand coordination was also noted.
Sabinas brittle hair syndrome
Ring chromosome 20 syndrome
Wilson–Turner syndrome
Clouston's hidrotic ectodermal dysplasia
Carey Fineman Ziter syndrome
Yemenite deaf-blind hypopigmentation syndrome
Smith–Magenis syndrome
Daentl Townsend Siegel syndrome