Chromosome 7- trisomy 7p

Overview

A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.

Symptoms

* Long head * Asymmetric skull * Wide fontanels * High forehead * Full cheeks * Craniosynostosis * Small upper jaw * Small lower jaw * Large ears * Dysplastic ears * Low-set ears * Posteriorly rotated ears * Floppy ears * Upward slanting space between eyelids * Widely spaced eyes * Drooping upper eyelid * Beaked nose * Highly arched palate * Cleft palate * Carp-shaped mouth * Down turned corners of mouth * Prominent lips * Redundant skin * Arachnodactyly * Clubfoot * Thumb dislocation * Broad digits * Hyperflexible fingers * Hyperflexible wrists * High dermal ridge count * Transverse hypothenar creases * Hip dislocation * Genu valgum * Reduced muscle tone * Hypotrichosis * Low posterior hairline * Dilated cerebral ventricles * Congenital heart defect * Small penis * Mental retardation * Speech retardation * Feeding difficulty * Failure to thrive

Diagnosis

signs and symptoms of Chromosome 7p 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 7p duplication syndrome symptoms.

Resources

Terms Similar to Chromosome 7, trisomy 7p: * Duplication 7p * Trisomy 7p Source - NIH