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Ring chromosome 12 syndrome
Disease definition
Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.
ORPHA:1439
Classification level: Disorder- Synonym(s):
- Ring 12
- Ring chromosome 12
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Neonatal, Infancy
- ICD-10: Q93.2
- OMIM: -
- UMLS: C5201040
- MeSH: -
- GARD: 1325
- MedDRA: -
A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()
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