Glossary A-C

Agenesis of the Corpus Callosum: A condition in which the thick band of fibers which connects the two hemispheres of the brain (the corpus callosum) either fails to form or forms incompletely. This may result in difficulty in the sharing of information between the two sides of the brain which can affect language abilities and eye-hand coordination. Because the two sides of the brain are capable of functioning independently of each other, some people with ACC will not have serious impairments to their intellectual abilities.

Anal Atresia: Congenital obstruction of the anal opening.

Anomaly: Deviation from what is “normal” or “typical.”

Array CGH: Newer technique of analysis used to scan for gains or losses of chromosomal material, which can detect things not seen with earlier methods. (Also known as: Array comparative genomic hybridization, aCGH, Chromosomal Microarray Analysis, CMA)

Asthma: Disease in which the airways to the lungs swell and are blocked with mucus.

Atrial Septal Defect (ASD): abnormal opening in the wall between the right & left atriums of the heart.

Attention Deficit Disorder (ADD): Short attention span, interfering with ability to learn or stay on task.

Attention Deficit/Hyperactivity Disorder (ADHD): ADD combined with excessive activity & inability to “contain” oneself.

Auricles: ears

Autistic Like Behaviors: Click here for the Centers for Disease Control and Prevention website and description of Autism Spectrum Disorder (”ASD”) Diagnostic Criteria, which includes common behaviors associated with Autism Spectrum Disorder. It is important to remember that while both conditions share certain behavior characteristics, people with FG Syndrome are not believed to be autistic and few, if any, people with either FGS or ASD have all the listed behaviors.

Autoimmune Disorders: A family of over 80 conditions that are characterized by the immune system mistakenly attacking itself, and destroying healthy body tissue in the process. For a partial list of conditions, see wikipedia.org.

Carrier: One who carries the affected gene, but exhibits no or relatively few traits of the condition.

Chiari I Malformation: Congenital malformation characterized by downward displacement of the lower part of the brain (Cellebellar Tonsils) into the cervical spinal cord.

Chordee: A “bend” in the penis, frequently associated with hypospadias.

Clinodactyly: The inward curving of the “pinky” finger of the hand.

Coloboma: A hole in the iris or a missing piece of the retina in the eye.

Compulsion: Repetitive & seemingly purposeful behavior that the individual recognizes as senseless but which may provide release from tension.

Congenital: Any condition that is present at birth.

Contractures: A shortening of muscles, tendons and connective tissues which results in decreased mobility of the joints.

CNS: Central Nervous System

Craniosynostosis: A congenital defect that causes one or more sutures on a baby’s head to close earlier than normal.

Cryptorchidism: Undescended testicles

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