Does anybody have any info on C.O.A.C.H. syndrome? not the kind you get riding coach in an airplane?

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Coach syndrome is an acronym referring to an association of anomalies, described in less than ten patients so far, and including early-onset ataxia due to cerebellar vermis hypo/aplasia, slender skeleton, peculiar face (hypertelorism, mid-face hypoplasia, shallow orbits, alobular pinnae), optic nerve or chorio-retinal coloboma, moderately delayed psychomotor development, and hepatic fibrocirrhosis that starts in the first few months. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1454

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C.O.A.C.H's synonyms:
CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS

COACH syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that COACH syndrome, or a subtype of COACH syndrome, affects less than 200,000 people in the US population.

http://rarediseases.info.nih.gov/asp/diseases/diseaseinfo.asp?ID=1410

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Does anybody have any info on C.O.A.C.H. syndrome? not the kind you get riding coach in an airplane?

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