Diagnosis of<unk>  was established using clinical, histopathological and audiometric methodologies. In normal individuals, by the age of 2-3, radiograph images should depict any signs of premolar development. A formal diagnosis of no premolar growth can be done by age 6 in order to check for signs of<unk> . Sensorineural hearing loss can be another measure for proper diagnosis as well as checking for ocular coloboma. The latter is usually noticed at an around birth. Molecular genetic testing can aid in the diagnosis of the affected individual, which would determine if there are any abnormalities in the FGF3 gene (11q13) or the FADD gene (11q13.3). Additional tests that can help diagnose<unk>  are ear infection tests, hearing tests, oral examination, and eye examinations to check for the specific phenotypic associations. Due to the rarity of<unk> , most symptoms are looked at on an individual basis unless multiple symptoms are all apparent at once. There is potential for differential diagnosis due to similarities in symptoms. Other diseases that share common symptoms are chondroectodermal dysplasia, achondrodysplasia, and osteopetrosis
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Dejerine–Roussy syndrome
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