Cross syndrome

Cross syndrome
ICD-10	E70.3 (ILDS E70.380)
OMIM	257800
DiseasesDB	32011

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords:Cross–McKusick–Breen syndrome, Oculocerebral-hypopigmentation syndrome, Hypopigmentation and microphthalmia, Kramer syndrome

Overview

Cross–McKusick–Breen syndrome is an extremely rare disorder characterized by skin, hair, eye and cerebral abnormalities.

Historical Perspective

It was characterized in 1967. It is named for Harold Cross.

Pathophysiology

Cross syndrome is assumed to be autosomal recessive in transmission. Molecular cytogenetics reveal de novo interstitial deletion of (3)(q27.1q29) of the paternal chromosome.

Diagnosis

Symptoms

• Jerky nystagmus
• Vision disturbances
• Involuntary muscle contractions
• Recurrent infections

Physical Examination

Skin

• White skin (albanism)
• Blond hair with yellow-gray metallic sheen

HEENT

• Microcephaly
• Small eyes with cloudy corneas
• Gingival fibromatosis

Neurologic

• Mental retardation - decreased intellectual capacity
• Jerky nystagmus

External links

• http://www.whonamedit.com/synd.cfm/1387.html