Prevalence < 1.106. Anomaly of the chromosome 14 that takes the form of a ring following the merging of its two extremities due to loss of telomeres. The merging is caused by two breaks, one at the end of the short arm and the other at the end of the long arm, with a consequence, most of the time, partial loss of genetic material of the chromosome 14. The chromosomal abnormality may involve all cells or only a few cell lines (mosaic form) that have completely lost chromosome 14 (monosomy 14). The Ring14 chromosomal anomaly is associated with the following symptoms and signs:

-        intellectual deficit, and delayed motor development; the acquisition of speechis is compromised (sometimes microcephaly)

-        abnormalities of the skin and retinal pigmentation (hyperpigmentation and white-yellowish spots),

-        early treatment-resistant epileptic seizures 

-        dysmorphic features: flat occiput, high and bossing forehead with prominent sagittal suture, ptosis of the upper eyelid, epicanthus, stretched facies, large rounded flat nose, anteverted nostrils, long philtrum, low-set ears with large lobes and prominent anthelix, short neck

Immunoglobulin deficiency (including surface IgA) explains the high risk of respiratory infections and gastrointestinal disorders.

Anesthetic implications:

epilepsy, developmental retardation

References : 

-         

Updated: July 2019