Chromosome 8- trisomy 8p

Overview

A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.

Symptoms

* High forehead * Frontal bossing * Parietal bossing * Temporal retraction * Retrognathia * Small jaw * Mandibular prognathism * Round face * Full cheeks * Chin dimples * Large earlobes * Widely spaced eyes * Telecanthus * Strabismus * Upward slanting space between eyelids * Low nasal bridge * Everted nostrils * Long philtrum * Wide carp mouth * Thin upper lip * Everted lower lip * Highly arched cleft palate * Bifid uvula * Abnormal ribs * Extra ribs * Brachydactyly * Arachnodactyly * Clinodactyly * Proximal thumb placement * Hallux valgus * Abnormal toe posture * Abnormal palmar creases * Palmar furrows * Plantar furrows * Distal radial triradius * Abnormal number of digital arches * Joint contractures * Absent patellae * Small patellae * Vertebral abnormalities * Kyphosis * Scoliosis * Aplastic toenails * Hypoplastic toenails * Aplasia of corpus callosum * Undescended testes * Small penis * Mental retardation * Growth retardation * Long trunk * Slim trunk * Elongated limbs

Resources

Terms Similar to Chromosome 8, trisomy 8p: * Duplication 8p * Trisomy 8p Source - NIH