Chromosome 2- trisomy 2q
Overview
Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
Symptoms
The list of signs and symptoms mentioned in various sources for Chromosome 2 trisomy syndrome includes the 58 symptoms listed below: * Small head * Midfacial hypoplasia * Flat malar area * Prominent back of skull * Pointy chin * Frontal bossing * Posteriorly rotated ears * Flat outer helices * Prominent anthelices * Widely spaced eyes * Ocular proptosis * Contralateral ptosis * Prominent inner canthal folds * Epicanthus * Telecanthus * Prominent nose * Beaked nose * Highly arched palate * Cleft lip * Cleft palate * Thin lips * Widely spaced nipples * Pectus excavatum * Funnel chest * Inguinal hernia * Ascites * Overlapping 4th and 5th fingers * Overlapping toes * Broad big toes * Rocker-bottom feet * Radial deviation of wrist * Simian creases * Hemimelia * Radioulnar hypoplasia * Scoliosis * Reduced muscle tone * Central hair whorl * Paucity of white matter * Thin corpus callosum * Hippocampal dysplasia * Abnormal sulcus in frontal lobe * Ventricular septal defect * Overriding aorta * Aortic valve prolapse * Patent ductus arteriosus * Tricuspid regurgitation * Bronchopulmonary dysplasia * Necrotizing enterocolitis * Abnormal gastrointestinal motility * Cholestasis * Ambiguous external genitalia * Urethral meatus on dorsum of penis * Hydronephrosis * Vesico-ureteral reflux * Hypothyroidism * Growth retardation * Motor retardation * Mental retardation
Causes
* Ascites * Beaked nose * Broad big toes * Bronchopulmonary dysplasia * Central hair whorl * Cleft lip * Cleft palate * Contralateral ptosis * Frontal bossing * Growth retardation * Highly arched palate * Hypothyroidism * Mental retardation * Motor retardation * Overlapping toes * Patent ductus arteriosus * Pectus excavatum * Pointy chin * Posteriorly rotated ears * Prominent back of skull * Prominent nose * Reduced muscle tone * Rocker-bottom feet * Scoliosis * Simian creases * Small head * Thin lips * Widely spaced eyes * Widely spaced nipples
Diagnosis
These home medical tests may be relevant to Chromosome 2 trisomy syndrome: * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests