Trichothiodystrophy - Key Clinical Features

Skin manifestations and annexes

Brittle hair and nails (diagnostic hallmark of TTD)
Ichthyosis
Collodion baby
Erythroderma, eczema
Photosensitivity in about half the patients

Dysmorphisms and skeletal anomalies

Microcephaly
Wizened face with receding chin, protruding ears, thin and beaked nose

Skeletal deformations including genu valgum, coxa valga, pes valgus, cubital and tibial valgus deformity, ulnar deviation of fingers, zygodactyly, clinodactyly, scoliosis, thoracic kyphosis, lumbosacral lordosis, and metacarpal bones of the thumb reduced in size

Neurological dysfunctions

Mental retardation
Spasticity/paralysis, ataxia, intention tremor
Impaired motor control
Neurodysmyelination

Ocular abnormalities

Cataracts
Conjunctivitis

Others

Recurrent infections

Growth retardation
Impaired sexual development

Dental abnormalities, caries