Diagnosis based on clinical examination, familial
history, and typical radiograph: absent frontal sinuses; tentorial, falx and
meningeal calcifications; flat midface with shallow orbits. Eyes appear
prominent with some hypertelorism. Cataracts, congenital glaucoma, myopia,
lens dislocation, and retinal detachment have been observed. Sensorineural
deafness. Short nose with upturned tip and anteverted nares. May have cleft
palate, mental deficiency, and short stature (anomalies of vertebral
epiphyses). Associated ectodermal dysplasia has been described.