48 XXXX syndrome is a very rare disorder of the chromosomes where the normal XX combination becomes a quadruple X grouping. This condition is also called tetrasomy X, 48, XXXX or quadruple X and is only seen among females as there is no Y chromosome involved. The first occurrence of this disorder was discovered in 1961 and since then, there are about 100 reported cases globally.
There are various characteristics that point to the 48 XXXX syndrome. The range could be from mild symptoms to acute ones. The most distinct features of a female patient that suffers from quadruple X are epicanthal folds; having small mouth openings; cleft palate or high-roofed palates; the absence of teeth or the delay of their appearance; or defects on the teeth's enamel. There are also reported cases where the patients are much taller and lankier. Other common signs include skeletal system abnormalities; muscle and joint problems; and hypotonia. It is also apparent that females with 48 XXXX syndrome do not develop normally. Most of them experience speech retardation and delays on their skills in reading, language, and reasoning. Eye problems are also common with the presence of this condition. This could include myopia, coloboma, hypoplasia of the optic nerves, or nystagmus. The most severe cases could be renal, nervous and circulatory system malfunctions. Also, there are some girls who undergo the menopausal stage early in their teenage years.
Most of the girls might need a lifetime of medical management but some cases would foster normal growth after therapies. The most important therapies would be those that would help the patients to develop learning skills. Physical and occupational therapy are also advisable to those that have skeletal, psychomotor and muscle problems. These therapies could help in improving the patient's condition. Some cases would need estrogen treatment so that the patients would develop sexual characteristics such as enlargement of breasts. For those that are inflicted with the more severe symptoms, it is advisable to consult a specialist on their specific illness (e.g. for heart illnesses, a competent cardiologist should be consulted).
It is believed that the abnormality occurs during meiosis. It is during this phase that the X chromosomes fail to separate and thus producing the extra X chromosomes. The diagnosis of this condition can only be done during karyotyping where the extra X chromosomes appear.