Oculocerebral hypopigmentation syndrome
| Classification according to ICD-10 | |
|---|---|
| E70.3 | Albinism ocular oculocutaneous Chediak (Steinbrinck) Higashi syndrome Cross-McKusick-Breen syndrome |
| ICD-10 online (WHO version 2019) | |
The oculo-cerebral hypopigmentation syndrome, also called Cross-McKusick-Breen Syndrome or Cross Syndrome for short , is a rare congenital disease syndrome consisting of pigmentation disorder ( albinism ), developmental inhibition of the eyes ( microphthalmia ) and intellectual development delay.
clinic
The clinical picture can be very different from one individual to the next; in addition to a lack of pigmentation in the skin and eyes, there are other eye anomalies such as corneal or lens opacity , short stature, mental retardation and increasing neurological abnormalities such as spastic tetraparesis , increased reflexes, hyperreflexia, possibly also athetosis . In addition, other abnormalities in the brain, urinary tract or inguinal hernias can occur on both sides.
Other congenital forms of albinism are to be differentiated from a differential diagnosis:
- Chediak-Higashi Syndrome
- Hermansky-Pudlak syndrome
- Griscelli syndrome
- Neuroectodermal melanolysosomal disease (Elejalde's disease)
Individual evidence
- ^ HE Cross, VA McKusick, W. Breen: A new oculocerebral syndrome with hypopigmentation . 1967 in: Journal of Pediatrics 70, pp. 398-406. doi : 10.1016 / S0022-3476 (67) 80137-9 . PMID 4959856
- ^ Orphanet
- ↑ NS Scheinfeld: syndromic albinism: a review of genetics and phenotypes. In: Dermatology online journal. Volume 9, Number 5, December 2003, p. 5, ISSN 1087-2108 . PMID 14996378 . (Review).
