Symptoma

Tetrasomy

Moderate to severe mental retardation may also be present. [rarediseases.org]

Diaphragmatic hernia was present in all cases, anorectal anomalies and cleft palate in two cases (7,8). Sacral appendage was present in only one case in addition to the present case (8). [latunisiemedicale.com]

  • Surgical Procedure

    The specific surgical procedures performed will depend upon the severity and location of the anatomical abnormalities, their associated symptoms, and other factors. [rarediseases.org]

  • Dysplastic Ears

    Affected individuals may also have a short neck; low-set, misshapen (dysplastic) ears; and/or various malformations of the hands and fingers, such as improperly developed (dysplastic) fingernails; fifth fingers that are abnormally bent (clinodactyly) [rarediseases.org]

  • Osteopenia

    As a result, their symptoms may include abnormally reduced bone mass (osteopenia); incomplete closure of bones in the spinal column surrounding the spinal cord (spina bifida occulta); and/or a sideways and front-to-back curvature of the spine (kyphoscoliosis [rarediseases.org]

  • Long Arm

    Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q”. [rarediseases.org]

  • Enophthalmos

    In some cases, people with Chromosome 9, Tetrasomy 9p may have additional physical abnormalities, including heart (cardiac) malformations and/or abnormalities of the eyes, such as sinking in of the eyeballs (enophthalmos) and/or crossing of the eyes [rarediseases.org]

  • Strabismus

    In some cases, people with Chromosome 9, Tetrasomy 9p may have additional physical abnormalities, including heart (cardiac) malformations and/or abnormalities of the eyes, such as sinking in of the eyeballs (enophthalmos) and/or crossing of the eyes (strabismus [rarediseases.org]

  • Hyperactivity

    The patient showed hyperactivity, hand-flapping, short-stature, eye abnormalities, and hypotonia, which have been reported in males with tetrasomy of chromosome 15. [deepblue.lib.umich.edu]

Standard Therapies Treatment The treatment of Chromosome 9, Tetrasomy 9p is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Associated diaphragmatic hernia makes poor prognosis and leads to perinatally death. Pallister PD, Meisner LF, Elejalde BR, et al. The Pallister mosaic syndrome. In: Bergsma D, Lowry RB. eds. [latunisiemedicale.com]