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Окулоцеребральний синдром з гіпопігментацією, тип Преуса

ORPHA:2720· ICD-10 E70.3· Oculocerebral hypopigmentation syndrome, Preus type

Визначення(English summary)

Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.

Поширеність
<1 / 1 000 000
Вік початку
Neonatal