Orphanet: Ring chromosome 8 syndrome

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Ring chromosome 8 syndrome

Disease definition

A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.

ORPHA:1450

Classification level: Disorder

Synonym(s):
- Ring 8
- Ring chromosome 8
- r(8) syndrome
Prevalence: <1 / 1 000 000
Inheritance: -
Age of onset: Neonatal
ICD-10: Q93.2
OMIM: -
UMLS: C2931633
MeSH: C537824
GARD: 1347
MedDRA: -

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Ring chromosome 8 syndrome

ORPHA:1450

A summary on this disease is available in Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski ()

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