Oculocerebral hypopigmentation syndrome, Preus type

Definition

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.

Disease data

Classification

Malformation syndrome

ORPHA code

2720

OMIM code

257790

ICD10 code

E70.3

ICD11 code

*Soruce