Chromosome 20 ring
Overview
Chromosome 20 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 20 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.
Symptoms
The list of signs and symptoms mentioned in various sources for Chromosome 20 ring includes the 20 symptoms listed below: * Small head * Small sella turcica * Large fontanels * Large ears * Slanted space between eyelids * Synophrys * Epicanthal folds * Epilepsy * Congenital heart defect * Undescended testes * Kidney abnormalities * Small pituitary gland * Growth hormone deficiency * Growth retardation * Motor retardation * Speech retardation * Mental retardation * Clumsiness * Low frustration level * Behavioral problems
Causes
* Behavioral problems * Clumsiness * Congenital heart defect * Epicanthal folds * Epilepsy * Growth retardation * Kidney abnormalities * Large ears * Mental retardation * Motor retardation * Small head * Speech retardation
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Chromosome 20 ring. This medical information about signs and symptoms for Chromosome 20 ring has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 20 ring signs or Chromosome 20 ring symptoms. Furthermore, signs and symptoms of Chromosome 20 ring may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Chromosome 20 ring symptoms.