#3p mosaic deletion duplication syndrome skin

Such features may include a relatively short, wide head (brachycephaly) widely spaced eyes (ocular hypertelorism) upwardly slanting eyelid folds (palpebral fissures), and vertical skin folds covering the eyes’ inner corners (epicanthal folds). Many infants with Trisomy 3q2 have characteristic craniofacial abnormalities. (For further information on Cornelia de Lange syndrome, please see the “Related Disorders” section of this report below.) According to reports in the medical literature, craniofacial features and other physical abnormalities associated with Trisomy 3q2 are often very similar to those associated with a rare genetic disorder known as Cornelia de Lange syndrome. However, in many cases, the disorder is characterized by mental retardation, moderate to severe developmental delays, abnormally diminished muscle tone (hypotonia), distinctive abnormalities of the head and facial (craniofacial) area, and/or additional physical abnormalities. The symptoms and physical findings associated with Chromosome 3, Trisomy 3q2 may be variable.

Chromosome 3, Trisomy 3q2 may also be characterized by eye (ocular) abnormalities, limb defects, structural heart malformations (congenital heart defects), or other physical features. Affected infants and children also tend to have long eyelashes arched, bushy, well-defined eyebrows that grow together across the base of the nose (synophrys), an unusually low hairline on the forehead and the back of the neck and generalized excessive hair growth (hirsutism). Such craniofacial abnormalities may include a relatively short head (brachycephaly), widely spaced eyes (ocular hypertelorism), upwardly slanting eyelid folds (palpebral fissures), and a small nose with upturned nostrils (anteverted nares). However, many affected infants and children have developmental delays, mental retardation, and characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance. Associated symptoms and findings may be variable, depending upon the specific length and location of the duplicated (trisomic) portion of chromosome 3. 5 Myths About Orphan Drugs and the Orphan Drug ActĬhromosome 3, Trisomy 3q2 is a rare chromosomal disorder in which a portion of the 3rd chromosome appears three times (trisomy) rather than twice in cells of the body.Information on Clinical Trials and Research Studies.

3p mosaic deletion duplication syndrome