Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Cross syndrome
Introduction
Synonyms and keywords:Cross–McKusick–Breen syndrome, Oculocerebral-hypopigmentation syndrome, Hypopigmentation and microphthalmia, Kramer syndrome
Overview
Overview
Cross–McKusick–Breen syndrome is an extremely rare disorder characterized by skin, hair, eye and cerebral abnormalities.
Historical Perspective
Historical Perspective
It was characterized in 1967.[1] It is named for Harold Cross.[2][1]
Pathophysiology
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.[3][4]
Diagnosis
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
References
References
- ↑ 1.0 1.1 Cross HE, McKusick VA, Breen W (1967). “A new oculocerebral syndrome with hypopigmentation”. J. Pediatr. 70 (3): 398–406. doi:10.1016/S0022-3476(67)80137-9. PMID 4959856. Unknown parameter
|month=ignored (help) - ↑ Template:WhoNamedIt
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews’ Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ Chabchoub E, Cogulu O, Durmaz B, Vermeesch JR, Ozkinay F, Fryns JP (2011). “Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29”. Dermatology (Basel). 223 (4): 306–10. doi:10.1159/000335609. PMID 22327602.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]