Chromosome 22 Ring

What is Chromosome 22 Ring?

Signs and symptoms of chromosome 22 Ring include physical characteristics such as, reduce muscle tone, lack of coordination, down slanting space between eyelids, prominent nose, widely spaced eyes, drooping eyelids, long eye lashes, webbed fingers, cleft palate, thoracolumbar scoliosis, excessive muscle tone and undeveloped toenails.

Generally, the disorder is associated with moderate to severe intellectual disabilities. Other health conditions may include, seizures, heart conditions and spina bifida.

What causes Chromosome 22 Ring?

According to literature, Chromosome 22 Ring is a rare disorder characterized by abnormalities of the 22nd chromosome. Associated symptoms may vary from case to case. Specific to the disorder, the genetic material form one or both ends of the chromosome 22 is missing and the two broken end rejoin to form a ring. Chromosome 22 Ring is usually caused by spontaneous errors very early in the development of the embryo that occurs for unknown reasons. Males are affected more than females. There are at least 50 documented cases in the United States.

Treatment

Treatment for individuals with Chromosome 22 Ring include:

Surgery- may be needed to correct abnormalities such as heart defects and facial abnormalities

Access to physical therapy and occupational therapy- therapist will access in the area of dressing, walking, range of motion eating, toileting and muscle strength. Goals and objectives become part of the treatment plan and throughout the course of treatment, the therapist will record progress.

Special Education- An education program is designed specifically for the individual needs of the child. an assessment will determine the strengths and weaknesses and develop a goal based on individual needs.


Resources

The Arc
http://www.thearc.org/

Chromosome Disorder Outreach, Inc.
http://www.chromodisorder.org/

UNIQUE- Rare Chromosome Disorder Support Group
http://www.rarechromo.org/

March of Dimes Birth Defects Foundation
http://www.marchofdimes.com/



Ring Chromsome 22 E-Mail Discussion List
www.maelstrom.stjphns.edu/archives/r22.html


Chromosome 22 Central
http://www.c22c.org/