[MIM 227 010]

Acronym for Black locks with Albinism and Deafness Syndrome (O'Doherty syndrome, Ermine phenotype)

Extremely rare. Deafness characterized by the combination of bilateral sensorineural hearing loss and white hair with scattered black streaks, as well as hyper- and hypopigmented skin areas. 

Other possible features: global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild facial dysmorphism (deeply set eyes in the orbits, wide nasal bridge), retinal depigmentation, finger and toe abnormalities and white matter abnormalities visible on MRI.

Anesthetic implications: 

albinism

References:

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Updated: May 2024