Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark the ends of chromosome 14 are lost allowing the now uncapped ends to fuse together forming a ring chromosome. It causes a number of serious health issues. Symptoms and signs
The most common symptoms are intellectual disability and recurrent seizures developing in infancy or early childhood. Typically the seizures are resistant to treatment with anti-epileptic drugs. Other symptoms may include:
Microcephaly
Lymphedema
Facial abnormalities
Immune deficiencies
Abnormalities of retina
Slow growth
Short stature

Cause
The syndrome is caused by the loss of genetic material near the end of the long arm (q) of chromosome 14 . The break that causes the telomere(s) to be lost occurs near the end of the chromosome, and is called a constitutional ring. These rings arise spontaneously ( it is rarely inherited).The genetic abnormality occurs randomly in sperm or egg cells or it may occur in early embryonic growth, if it occurs during embryonic growth the ring chromosome may be present in only some of a persons cells. Diagnosis
Diagnosis is achieved by examining the structure of the chromosomes through karyotyping; while once born, one can do the following to ascertain a diagnosis of the condition:
MRI
EEG

Management
In terms of the management of ring chromosome 14 syndrome, anticonvulsive medication for seizures, as well as, proper therapy to help prevent respiratory infections in the affected individual are management measures that can be taken.
When the condition is active, the basement membrane is dissolved by the antibodies produced, and areas of skin lift away at the base, causing hard blisters which scar if they burst. In other words, this is a desquamating/blistering disease in which the epithelium "unzips" from the underlying connective tissue, allowing fluid to gather that subsequently manifest as bullae, or blisters. Diagnosis
Diagnostic techniques:

antibodies (IgG) precipitate complement (C3) in the lamina lucida of the basement membrane. Circulating auto-antibodies to BP-1 antigen (located in hemidesmosome). 50% have BP-2. Positive Nikolsky sign. IgG, C3 deposition at BM creating smooth line in immunofluorescent analysis. Management
The management depends upon the severity of the condition. For example, where there are lesions in the mouth alone, systemic drugs are less likely to be used. Where the condition is not limited to the mouth, or where there is poor response to Topical treatments, systemic drugs are more likely to be used. Conservative
Simple measures that can be taken include avoidance of hard, sharp or rough foods, and taking care when eating. Good oral hygiene is also usually advised, and professional oral hygiene measures such as dental scaling. Medications
Topical and intralesional (injected into the affected areas) corticosteroid drugs may be used, such as fluocinonide, clobetasol propionate or triamcinolone acetonide. Oral candidiasis may develop with long term topical steroid use, and sometimes antimycotics such as miconazole gel or chlorhexidine mouthwash are used to prevent this. Topical ciclosporin is sometimes used. Dapsone is sometimes used as a steroid sparing agent.