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