Chromosome 8- trisomy
Overview
A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
Symptoms
* Expressionless face * Small jaw * Prominent forehead * Large ears * Dysplastic ears * Prominent antihelices * Large ear lobules * Deeply set eyes * Small eyes * Strabismus * Widely spaced eyes * Corneal opacity * Cataract * Heterochromia * Downward slanting space between eyelids * Broad nose * Upturned nose * Everted lips * Highly arched palate * Cleft palate * Stretched liguinal frenulum * Short neck * Webbed neck * Pectus carinatum * Camptodactyly * Clinodactyly * Short metacarpal bones * Short metatarsal bones * Deep palmar furrows * Deep plantar furrows * Low dermal ridge count * Absent patellae * Dysplastic patellae * Multiple joint contractures * Coxa valga * Abnormal diaphyses * Epiphyses of radial bones * Epiphyses of femoral bones * Epiphyses of humeral bones * Kyphoscoliosis * Hemivertebrae * Fusion of vertebrae * Spina bifida * Broad dorsal ribs * Agenesis of corpus callosum * Septal defects * Great vessel anomalies * Hydronephrosis * Ureteral reflux * Undescended testes * Malrotation of gallbladder * Absence of gallbladder * Speech retardation * Mental retardation * Long trunk * Thin trunk * Narrow shoulders * Narrow chest * Narrow pelvis
Causes
Approximately 75% of all cases of trisomy 13 syndrome are caused by chromosomal nondisjunction. About 20% are due to chromosomal translocation involving a rearrangement of chromosomes 13 and 14. About 5% are estimated to be mosaics; the clinical effects in these cases may be less severe. Incidence is estimated to be 1 in every 5,000 neonates. The risk of chromosomal abnormalities typically increases with advanced maternal age; however, the mean maternal age for this abnormality is about 31 years.
Diagnosis
* Cold & Flu: Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests
Treatment
Supportive care is the only treatment for the infant with trisomy 13 syndrome.