Trichothiodystrophy Syndromes


Amish Brittle Hair Brain Syndrome

Amish Brittle Hair Syndrome

BIDS Syndrome

BIDS Syndromes

Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Hair Brain Syndrome

Hair-Brain Syndrome

Hair-Brain Syndromes

IBIDS Syndrome

IBIDS Syndromes

Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation

Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature

PIBIDS Syndrome

PIBIDS Syndromes

Photosensitive Trichothiodystrophies

Photosensitive Trichothiodystrophy

Tay Syndrome


Trichothiodystrophies, Nonphotosensitive 1

Trichothiodystrophies, Photosensitive


Trichothiodystrophy Syndrome

Trichothiodystrophy with Congenital Ichtyosis

Trichothiodystrophy, Nonphotosensitive 1

Trichothiodystrophy, Photosensitive

Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.