Chromosome 5- trisomy 5p
Overview
Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
Symptoms
The list of signs and symptoms mentioned in various sources for Chromosome 5p duplication syndrome includes the 37 symptoms listed below: * Large head * Long head * Small ears * Posteriorly angulated ears * Strabismus * Widely spaced eyes * Upward slanting space between eyelids * Narrow space between eyelids * Bulbous nose * Flat nasal bridge * Long philtrum * Epicanthal folds * Highly arched palate * Large tongue * Bifid tongue * Full lips * Widely set nipples * Long fingers * Short first toes * Club feet * Excess ulnar loops * Slender limbs * Reduced muscle tone * Aplasia of cerebellar vermis * Dysplasia of cerebellar vermis * Hydrocephalus * Posterior fossa cyst * Atrophy of cerebral cortex * Agenesis of corpus callosum * Malformed nucleus caudatus * Seizures * Atrial septal defect * Systolic murmur * Kidney anomalies * Growth retardation * Motor retardation * Mental retardation
Causes
* Bulbous nose * Club feet * Epicanthal folds * Flat nasal bridge * Full lips * Growth retardation * Highly arched palate * Hydrocephalus * Kidney anomalies * Large head * Large tongue * Long fingers * Long head * Long philtrum * Mental retardation * Motor retardation * Narrow space between eyelids * Reduced muscle tone * Seizures * Small ears * Strabismus * Upward slanting space between eyelids * Widely set nipples * Widely spaced eyes
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Chromosome 5p duplication syndrome. This medical information about signs and symptoms for Chromosome 5p duplication syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 5p duplication syndrome signs or Chromosome 5p duplication syndrome symptoms. Furthermore, signs and symptoms of Chromosome 5p duplication syndrome 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 5p duplication syndrome symptoms.