Symptoms include<unk> <unk> , mild mental retardation and nail dysplasia. The syndrome was first observed in<unk> , a small community in northern Mexico. The principal biochemical features of the illness are reduced<unk>  cystine levels, increased copper/zinc ratio, and presence of arginosuccinic acid in the blood and urine. The key finding is<unk> <unk>  with low sulfur content, but alternating dark and light bands under polarizing microscopy, trichoschisis, and absent or defective cuticle are additional important clues for the diagnosis of trichothiodystrophy. Review of literature reveals extensive associated findings in trichothiodystrophy. Amino acid analyses of control<unk>  when compared with those of patients with the<unk>  syndrome showed very striking differences with regard to content of sulphur amino acids. As in previous descriptions of amino acid abnormalities in the trichorrhexis nodosa of arginosuccinicaciduria, there were increases in lysine, aspartic acid, alanine, leucine, isoleucine, and tyrosine. Trichothiodystrophy represents a central pathologic feature of a specific<unk>  dysplasia associated with several disorders in organs derived from ectoderm and neuroectoderm. Trichothiodystrophy or TTD is a heterogeneous group of autosomal recessive disorders, characterized by abnormally sulfur deficient<unk> <unk>  and accompanied by ichthyosis and other manifestations. Patients with trichothiodystrophy should have a thorough evaluation for other associated manifestations, including investigation of photosensitivity and DNA repair defects. Because the disease appears to be inherited in an autosomal recessive pattern, detection of low-sulfur<unk> <unk>  syndrome is also important for genetic counseling.
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