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Features of FG Syndrome
What is Agenesis of the Corpus Callosum? What are contractures? What is an Epicanthic Fold? What is Hirschsprung Disease? What is Hydrocephalus? What is Hypotonia? What is an Imperforate Anus? What is Megalencephaly? What is Mental Retardation? What is a Nystagmus? What is a Palpebral Fissures? What is Sensorineural Deafness? What is Syndactyly? What is VSD? What does X-linked mean? What is Ptosis? What is a seizure disorder? What is a Tethered Cord? What is a Chiari Malformation? What does Autistic-like behaviors mean? What does Dysmorphic Features mean?
What is 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 diffuculty 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.
BACK TO FAQ PAGEWhat are contractures?
A shortening of muscles, tendons and connective tissues which results in decreased mobility of the joints.
BACK TO FAQ PAGEWhat is an Epicanthic Fold?
A verticle skin fold at the inner corner of the eye.
BACK TO FAQ PAGEWhat is Hirschsprung Disease?
This is a congenital disorder which causes chronic constipation because of decreased or absence of nerve-endings in the bowels. For more information, visit this Hirschsprungs Site.
BACK TO FAQ PAGEWhat is Hydrocephalus?
An abnormal accumulation of spinal fluid in the ventricles of the brain. This can be caused by the overproduction of fluid, the blockage of fluid circulation, a lack of fluid reabsorption, or when a mixture of these conditions is present.The fluid must be removed via a shunt which is surgically placed in the brain.
BACK TO FAQ PAGEWhat is Hypotonia?
Hypotonia is decreased muscle tone. Hypotonic children are often referred to as "floppy." When a child is hypotonic, he has an excessive range of motion and his muscles provide very little resistance when the body is moved.
BACK TO FAQ PAGEWhat is an Imperforate Anus?
A congenital defect in which the opening of the anus is absent or obstructed. This makes stooling impossible, and must be surgically corrected.
BACK TO FAQ PAGEWhat is Megalencephaly?
An enlargement of the head.
BACK TO FAQ PAGEWhat is Mental Retardation?
According to the American Association on Mental Retardation (1992), "mental retardation refers to substantial limitations in present functioning. It is characterized by significantly subaverage intellectual funcitoning, existing concurrently with related limitations in to or more of the following applicable adaptive skill areas: communication, self-care, home living, social skills, community use, self-direction, health and safety, functional academics, leisure and work. Mental retardation manifests before the age of 18. For more information on mental retardation, visit this link to the Arc Homepage.
BACK TO FAQ PAGEWhat is a Nystagmus?
The involuntary, rapid and rhythmic movement of the eyes. This movement is usually from side to side, but it can be up and down or circular. The cause is usually not known.
BACK TO FAQ PAGEWhat is a Palpebral Fissures?
The opening between the upper and lower eyelids.
BACK TO FAQ PAGEWhat is Sensorineural Deafness?
Hearing loss which results from permanent damage to the inner ear or to the auditory nerve. This can be congenital or acquired.
BACK TO FAQ PAGEWhat is Syndactyly?
The partial or complete webbing of fingers or toes.
BACK TO FAQ PAGEWhat is VSD?
Ventricular septal defect. This involves the abnormal opening in the wall that separates the right and left ventricles. This can result in blood leaking from the left ventricle to the right ventricle. This can cause the heart to work harder. Smaller holes can heal independently, but larger defects need to be corrected surgically.
BACK TO FAQ PAGEWhat does X-linked mean?
A disorder which is passed on the X-chromosome, usually from mother to son.
BACK TO FAQ PAGEWhat is Ptosis?
A drooping of the eyelids.
BACK TO FAQ PAGEWhat is a seizure disorder?
A disorder of the central nervous system that is characterized by sudden seizures, muscle contractions and partial or total loss of consciousness.Basic types of Seizure Disorders:
Tonic-Clonic or Grand Mal - this type of epilepsy causes a loss of consciousness and is often accompanied by movements such as eyelid twitching to total body shaking. The tonic-clonic seizure usually lasts one to three minutes. The person may have a warning called the "aura" that a seizure is about to occur. The aura can be a taste, sound, feeling, or vision and can prepare the person for the seizure.
Absence or Petit Mal - momentary losses of consciousness. The person may stop what he or she is doing, stare into space, drop something, or blink their eyes rapidly. These seizures last five to thirty seconds and may take place many times a day. Absence seizures are commonly associated with children between four and fourteen years of age.
Complex-partial: Once known as temporal lobe or psychomotor, this type causes the person to lose consciousness yet still feel and do things during the seizure. The person might have tantrums or make repetitive movements like lip-smacking, picking at clothes, or rubbing hands or legs. These seizures can last a few minutes or several hours.
Status Epilepticus: These seizures continue for a long time without the person regaining consciousness and can be life threatening.
BACK TO FAQ PAGEWhat is a Tethered Cord?
When the spinal cord becomes abnormally attached within the boney
spine and is not allowed to move freely inside the spinal column.
Symptoms:
Skin on the lower part of his/her back:
Fatty mass
Hairy patch or discoloration
Skin tags
Dimples
Bowel or bladder problems:
Changes in bowel control
Incomplete emptying of the bladder
Frequent urinary tract infections
Changes in bladder pressure as seen on special testing (called urodynamics)
Difficulty in toilet training younger children
Diaper may always be wet between diaper changes
Orthopedic problems:
Persistent back pain
Increasing curvature of the spine (scoliosis)
Loss of sensation in the legs or feet
Unequal changes in size of the legs or feet
Stumbling or walking changes
Weakness in legs or feet
BACK TO FAQ PAGEWhat is a Chiari Malformation?
A developmental anomoly that occurs at the base of the brain. This results in some of the brain structures being displaced down into the spinal canal.It may result in an associated accumulation of fluid within the spinal cord, which is termed syringomyelia or hydromyelia. This can result in the formation of a cyst which causes neurological deficits.
BACK TO FAQ PAGEWhat does Autistic-like behaviors mean?
Behaviors that are similar to behaviors exhibited in an individual who has been diagnosed with classical autism.
These autistic-like behaviors can include a combination of any of the following, but are not limited to:
Poor eye contact
An obsession to maintain sameness
Extreme occupation with objects or inappropriate use of objects or both
Display of self-stimulating or ritualistic behavior
Extreme resistance to controls
BACK TO FAQ PAGEWhat does Dysmorphic Features mean?
When one is born with major and/or minor congenital malformations.
BACK TO FAQ PAGE
Disclaimer: This page was not created by a medical professional. Any errors should
be reported immediately to info@fg-syndrome.org.FG Syndrome Family Alliance, Inc., 2009
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