Several factors including the relatively small number of identified cases, the lack of large clinical studies, and the possibility of multiple genes influencing the phenotype prevent physicians from developing a “one size fits all” description of PHACE and its prognosis. PHACE syndrome was first identified in the medical literature in 1996.Īlthough researchers have been able to establish diagnostic criteria with characteristic or “core” symptoms, much about the disorder is not fully understood. The exact cause of PHACE syndrome is not known. Some children with only develop mild problems associated with the disorder, while others will develop serious complications that greatly impact quality of life. Most affected children will not exhibit all of the major symptoms potentially associated with this disorder. The specific symptoms and their severity can vary greatly from one individual to another. The disorder occurs with much greater frequency in girls than boys. If sternal anomalies are present, sometimes the term PHACES syndrome is used, with (S) standing for (S)ternal anomalies.
PHACE stands for: (P)osterior fossa and other structural brain malformations large (H)emangiomas of the face, neck, and/or scalp anatomical anomalies of the cerebral or cervical (A)rteries (C)ardiac anomalies/(C)oarctation of the aorta and (E)ye abnormalities. The acronym comes from the first letter of some of the more common signs and symptoms of this disorder. The term PHACE is an acronym each letter stands for a word. This disorder is characterized by an association of several different abnormalities that occur together with greater frequency than would otherwise be expected. PHACE syndrome is a rare disorder that affects multiple systems of the body. 5 Myths About Orphan Drugs and the Orphan Drug Act.Information on Clinical Trials and Research Studies.
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