Trichothiodystrophy (brittle, sulfur-deficient hair) is seen in a variety of autosomal recessive disorders with patients having impaired intelligence, decreased fertility, and short stature. Patients also may have nail and teeth dysplasia, retinal dystrophy, cataracts, endocrine dysfunction, cardiomyopathy, and osteosclerosis
There are at least six syndromes described including
Tay syndrome: Trichothiodystrophy with photosensitivity
PIBI(D)S: Photosensitivity, ichthyosis, brittle sulfur-deficient hair, impaired intelligence, decreased fertility, and short stature
On imaging patients have diffuse hypomyelination often associated with cerebelllar atrophy