Chromosome 3 duplication syndrome
Overview
Chromosome 3p duplication syndrome: Another name for Chromosome 3, trisomy 3p (or close medical condition association). Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
Symptoms
The list of signs and symptoms mentioned in various sources for Chromosome 3, trisomy 3p includes the 59 symptoms listed below: * Brachycephaly * Holoprosencephaly * Square face * Frontal bossing * Flat back of skull * Temporal indentations * Small jaw * Facial clefts * Full cheeks * Malformed auricles * Widely spaced eyes * Iris coloboma * Small eyes * Telecanthus * Bushy eyebrows * Downward slanting space between eyelids * Cyclopia * Short nose * Broad nose * Flat nose * Prominent philtrum * Choanal atresia * Epicanthal folds * Large mouth * Short upper lip * Cleft lip * Cleft palate * Short neck * Accessory nipples * Short hands * Stubby hands * Short feet * Stubby feet * Camptodactyly * Syndactyly * Brachymesophalangy * Clubfoot * Excessive fingertip whorls * Joint contractures * Hemivertebrae * Reduced muscle tone * Seizures * Congenital heart defects * Esophageal atresia * Atresia of colon * Rectal atresia * Hypogonadism * Hypospadias * Small penis * Undescended testes * Duplication of ureters * Kidney hypoplasia * Kidney cysts * Hypercholesterolemia * Growth retardation * Motor retardation * Speech retardation * Mental retardation * Feeding difficulty
Causes
* Broad nose * Camptodactyly * Cleft lip * Cleft palate * Clubfoot * Congenital heart defects * Downward slanting space between eyelids * Epicanthal folds * Feeding difficulty * Flat back of skull * Flat nose * Frontal bossing * Full cheeks * Growth retardation * Hemivertebrae * Hypercholesterolemia * Hypogonadism * Iris coloboma * Kidney cysts * Kidney hypoplasia * Large mouth * Mental retardation * Motor retardation * Reduced muscle tone * Seizures * Short feet * Short neck * Short nose * Small eyes * Small jaw * Small penis * Speech retardation * Syndactyly * Widely spaced eyes
Diagnosis
These home medical tests may be relevant to Chromosome 3, trisomy 3p: * Cold & Flu : Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests