Cross syndrome

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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.[1] It is named for Harold Cross.[2][1]

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

Symptoms

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

Physical Examination

Skin

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

HEENT

Neurologic

External links

References

  1. 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)
  2. synd/1387 at Who Named It
  3. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  4. 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.





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