Cross syndrome

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Cross syndrome
Other namesOculocerebral hypopigmentation syndrome, Cross type[1]
Autosomal recessive - en.svg
Cross syndrome is inherited in an autosomal recessive manner
SpecialtyEndocrinology Edit this on Wikidata

Cross–McKusick–Breen syndrome (also known as "Cross syndrome", "hypopigmentation and microphthalmia", and "oculocerebral-hypopigmentation syndrome") is an extremely rare disorder characterized by white skin, blond hair with yellow-gray metallic sheen, small eyes with cloudy corneas, jerky nystagmus, and severe intellectual disability and physical retardation.[2]: 867–8 

It was characterized in 1967.[3]

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References[]

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Oculocerebral hypopigmentation syndrome, Cross type". www.orpha.net. Retrieved 19 April 2019.
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ^ Cross HE, McKusick VA, Breen W (March 1967). "A new oculocerebral syndrome with hypopigmentation". J. Pediatr. 70 (3): 398–406. doi:10.1016/S0022-3476(67)80137-9. PMID 4959856.

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