Symptoms of Fragile-X Syndrome

Symptoms of Fragile-X Syndrome

The list of signs and symptoms mentioned in various sources for Fragile-X Syndrome includes the 47 symptoms listed below:

• Mental retardation
• Enlarged testes
• High forehead
• Enlarged jaw
• Long ears
• Mental retardation
• Hand flapping
• Hand biting
• Poor eye contact
• Cluttered speech
• Repetitive speech
• Lack of speech
• Attention problems
• Hyperactivity
• Autism
• Educational difficulties
• Enlarged head #in early childhood
• Projecting jaw
• Thick nasal bridge
• Large ears
• Soft ear cartilage
• Pale blue irides
• Epicanthal folds
• Dental crowding
• Emotional instability
• Mental retardation
• Long face
• Large ears
• Prominent ears
• Large testes
• Prognathism
• Large head circumference
• Hyperextensible finger joint
• Mitral valve prolapse
• Aortic dilatation
• Funnel chest
• High-arched palate
• Nearsightedness
• Flat feet
• Abnormal dermatoglyphics
• Cluttered speech
• Hyperactivity
• Autism
• Testicular edema
• Ovarian cysts
• Behavior problems
• Developmental retardation
• more information...»

Research symptoms & diagnosis of Fragile-X Syndrome:

• Overview -- Fragile-X Syndrome
• Diagnostic Tests for Fragile-X Syndrome
• Complications -- Fragile-X Syndrome
• Doctors & Specialists
• Misdiagnosis and Alternative Diagnoses
• Hidden Causes of Fragile-X Syndrome
• Other Causes -- causes of these or similar symptoms

Fragile-X Syndrome: Complications

Read information about complications of Fragile-X Syndrome.

Diagnostic Testing

Diagnostic testing of medical conditions related to Fragile-X Syndrome:

• Prenatal testing
• more tests...»

Research More About Fragile-X Syndrome

Do I have Fragile-X Syndrome?

• Fragile-X Syndrome: Introduction
• Fragile-X Syndrome: Diagnostic Testing to confirm diagnosis
• Failure to Diagnose Fragile-X Syndrome
• Treatments for Fragile-X Syndrome
• More about Fragile-X Syndrome

More about symptoms of Fragile-X Syndrome:

More information about symptoms of Fragile-X Syndrome and related conditions:

• Other diseases with similar symptoms and common misdiagnoses
• Tests to determine if these are the symptoms of Fragile-X Syndrome
• Symptoms that may be caused by complications of Fragile-X Syndrome

Other Possible Causes of these Symptoms

Click on any of the symptoms below to see a full list of other causes including diseases, medical conditions, toxins, drug interactions, or drug side effect causes of that symptom.

• Behavior problems - see all causes of Behavioral symptoms
• Cluttered speech - see all causes of Speech symptoms
• Cluttered speech - see all causes of Speech symptoms
• Enlarged jaw - see all causes of Enlarged jaw
• Enlarged testes - see all causes of Swollen testes
• Epicanthal folds - see all causes of Epicanthal folds
• Flat feet - see all causes of Pes planus
• Hand flapping - see all causes of Hand symptoms
• High forehead - see all causes of Head symptoms
• High-arched palate - see all causes of High-arched palate
• Hyperactivity - see all causes of Hyperactivity
• Hyperactivity - see all causes of Hyperactivity
• Large ears - see all causes of Ear shapes
• Large ears - see all causes of Ear shapes
• Long ears - see all causes of Ear shapes
• Long face - see all causes of Long face
• Mental retardation - see all causes of Mental retardation
• Mental retardation - see all causes of Mental retardation
• Mental retardation - see all causes of Mental retardation
• Ovarian cysts - see all causes of Ovarian cysts
• Prominent ears - see all causes of Prominent ears

Medical Books Online about Fragile-X Syndrome

Medical Books Excerpts Excerpts of published medical book chapters related to Fragile-X Syndrome are available from published medical books for more detailed information about Fragile-X Syndrome.

Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

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Symptoms of Fragile-X Syndrome: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the symptoms of Fragile-X Syndrome.

Fragile X syndrome: Signs and symptoms
(Professional Guide to Diseases (Eighth Edition))

Small children may have relatively few identifiable physical characteristics; behavioral or learning difficulties may be the initial presenting features.

Many adult male patients display a prominent jaw and forehead and a head circumference exceeding the 90th percentile. A long, narrow face with long or large ears that may be posteriorly rotated can be a helpful finding at all ages. Connective tissue abnormalities — including hyperextension of the fingers, a floppy mitral valve (in 80% of adults), and mild to severe pectus excavatum — have also been reported. Unusually large testes, found in most affected males after puberty, are an important identifying factor of the disorder.

The average IQ of a person with fragile X syndrome is comparable to that of a person with Down syndrome; however, the behavioral characteristics are quite different. Hyperactivity, speech difficulties, language delay, and autistic-like behaviors may be attributed to other disorders, such as attention deficit hyperactivity disorder, and thus delay the diagnosis.

Approximately 50% of females with the FMR1 full mutation will have clinical symptoms, although the degree of severity and number of symptoms vary widely among females with fragile X syndrome. Those who are symptomatic typically have a much milder clinical presentation than males due to having an unaffected X chromosome in addition to the one with an FMR1 full mutation. Some degree of cognitive impairment is usually present in symptomatic females. Learning disabilities — math difficulties, language deficits, and attentional problems — are most common. Some females can have IQ scores in the mental retardation range. Although affected females can have autistic-like features, excessive shyness or social anxiety are the more common behavioral symptoms. Prominent ears and the connective tissue manifestations may be as significant as in males. Although males with the FMR1 permutation are asymptomatic, some female carriers of an FMR1 premutation can have associated symptoms. These symptoms include significantly earlier menopause and a low normal performance IQ.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Mental retardation: Signs and symptoms
(Professional Guide to Diseases (Eighth Edition))

The observable effects of mental retardation are deviations from normal adaptive behaviors, ranging from learning disabilities and uncontrollable behavior to severe cognitive and motor skill impairment. The earlier a child’s adaptive deficit is recognized and he’s placed in a special learning program, the more likely he is to achieve age-appropriate adaptive behaviors. If the patient is older, review his adaptation to his environment.

The family of a patient who’s mentally retarded may report many problems stemming from frustration, fear, and exhaustion. These problems, such as financial difficulties, abuse, and divorce, can compromise the child’s care. Physical examination may reveal signs of abuse or neglect.

People who are mentally retarded may exhibit signs and symptoms of other disorders, such as cleft lip, congenital heart defects, and cerebral palsy as well as a lowered resistance to infection.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Mental Retardation: Mental Retardation - signs & symptoms
(The 5-Minute Pediatric Consult)

Dependent on etiology:

• Developmental delays
• Slow learning behavior

» READ BOOK EXCERPT ONLINE »

Source: The 5-Minute Pediatric Consult, 2008

Fragile-X Syndrome as a Cause of Symptoms or Medical Conditions

When considering symptoms of Fragile-X Syndrome, it is also important to consider Fragile-X Syndrome as a possible cause of other medical conditions. The Disease Database lists the following medical conditions that Fragile-X Syndrome may cause:

• Abnormal dermatoglyphics
• Facies abnormality
• Joint hypermobility
• Learning disability
• Pectus excavatum
• Testicular enlargement
• Trinucleotide repeat expansion

Medical articles and books on symptoms:

These general reference articles may be of interest in relation to medical signs and symptoms of disease in general:

• Diagnostic Testing for a Diagnosis of Fragile-X Syndrome
• More about Fragile-X Syndrome
• Online Diagnosis
• Self Diagnosis Pitfalls
• Pitfalls of Online Diagnosis
• Symptoms of the Silent Killer Diseases
• Lesser known silent killer diseases
• Books on signs and symptoms

Full list of premium articles on symptoms and diagnosis

About signs and symptoms of Fragile-X Syndrome:

The symptom information on this page attempts to provide a list of some possible signs and symptoms of Fragile-X Syndrome. This signs and symptoms information for Fragile-X Syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Fragile-X Syndrome signs or Fragile-X Syndrome symptoms. Furthermore, signs and symptoms of Fragile-X Syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Fragile-X Syndrome symptoms.