Chromosome 18- trisomy 18q
Overview
Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
Symptoms
The list of signs and symptoms mentioned in various sources for Chromosome 18, trisomy 18q includes the 54 symptoms listed below: * Long head * Long face * Narrow face * Bird-like facial appearance * Prominent back of skull * Small jaw * Asymmetric face * Low-set ears * Malformed ears * Hypoplastic ear lobes * Large eyes * Protruding eyes * Closely spaced eyes * Convergent strabismus * Narrow space between eyelids * Downward slanting space between eyelids * Outward slanting space between eyelids * Pointed nose * Prominent nasal bridge * Small nostrils * Small mouth * Highly arched palate * Hypoplasia of cervical vertebrae * Short neck * Skin folds on neck * Short sternum * Rib hypoplasia * Narrow pelvis * Prominent calcaneal bone * Camptodactyly * Small fingers * Small toes * Single palmar creases * Immature fingertip patterns * Hip dysplasia * Hip dislocation * Hemivertebrae * Reduced muscle tone * Hypotrichosis * Short eyelashes * Sparse eyebrows * Receding hairline * Coarctation of aorta * Patent ductus arteriosus * Frequent respiratory infection * Jaundice * Pseudohermaphroditism * Prominent clitoris * Hypoplastic labia majora * Ectopic kidneys * Growth retardation * Mental retardation * Failure to thrive * Feeding difficulty
Diagnosis
These home medical tests may be relevant to Chromosome 18, trisomy 18q: * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests