Oculocerebral hypopigmentation syndrome, Cross type

Orpha code: 2719OMIM code: 257800

Definition

Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.

Disease data
Classification

Malformation syndrome

Synonyms
Cross syndrome
Zespół Crossa
ORPHA code
2719
OMIM code
257800
ICD10 code
E70.3
ICD11 code
EC23.20

No additional description.

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