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Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing. More detailed information about the symptoms, causes, and treatments of Chromosome 13 ring syndrome is available below.
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Prognosis for Chromosome 13 ring syndrome: The prognosis varies considerably depending on the type and severity of symptoms that develop. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life.
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A syndrome in which parts of both ends of chromosome 13 have been lost (deletion) and the two broken ends reunited to form a ring-shaped figure. Phenotypic expression varies according to breakpoint locations and lengths of deleted segments. Some patients exhibit only minor dysmorphic features but most are severely affected by a wide range of abnormalities. The clinical picture in many cases is similar to that seen in terminal deletions of the long arm of chromosome 13 and includes retinoblastoma, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities, and some cases of ring chromosome 13 share many common characteristics with the Garcia-Lurie syndrome, including aprosencephaly, atelencephaly, microcephaly, craniofacial dysproportion, urogenital anomalies, adrenal hypoplasia, digital abnormalities, and severe retardation. - (Source - Diseases Database)
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