Diagnosis is made clinically and by scanning
electron microscopy of the hair, which shows structural anomalies. Patients
present with short stature. Other clinical features involve the eyes
(retinopathy pigmentosa, sparse eyelashes and [lateral] eyebrows), the teeth
(caries, widely spaced, small, pointy deciduous teeth), the nails (fragile
and brittle, onychodysplasia), the hair (trichodysplasia, sparse scalp,
axillary and pubic hair, generalized hypotrichosis), and the skin (dry,
scaling).