Fragile X Syndrome

Fragile x syndrome is characterised by large ears, velvety skin, flat feet, testicular enlargement after puberty, speech “cluttered” attentional deficit, hand flapping.

Autistic traits. CGG repeats over two hundred.

Support –MDT. Speech and language, physio, psychological techniques for teachers/parents, look at educational needs. family support –carers' assessment.

Genetic Aberration

A mutation on the X chromosome at the Xq27.3 site.

Fragile-X mental retardation -1 Gene

FMR1 is a human gene that codes for a protein called Fragile-X mental retardation protein (FMRP) that may help regulate synaptic plasticity, important for learning and memory.

Prevalence

1 of every 1,000 males

1 of every 2,000 females

Intellectual disability

Mild to severe. Eighty per cent of boys with fragile X syndrome have an intelligence quotient lower than 80.

Co-morbidities

Attention deficit hyperactivity, learning disorders, autism spectrum disorders

Physical Features

long face, long ears, high, arched palate, macroorchidism, hyperextensible finger joints, flat feet.

Fragile-X Syndrome is the best answer. An elongated face is the most common physical feature. Prominent ears are also common. Macroorchidism, which refers to an increase in the size of testicles, becomes apparent at age 8 to 10 years and 80% of post-pubertal boys exhibit the feature). These hallmark features are subtle during early childhood and normally only become prominent in early adolescence.

Mitral-valve-prolapse is the most common cardiac abnormality in these patients. Seizures are also common. Septal defects occur in those with down’s syndrome. See List ‎01‑3 Manifestations of Fragile-X Syndrome for details.

An elongated face is the most common physical feature. Prominent ears are also common. Macroorchidism, which refers to an increase in the size of testicles, becomes apparent at age 8 to 10 year and 80% of post-pubertal boys exhibit the feature). These hallmark features are subtle during early childhood and normally only become prominent in early adolescence.

- List ‎01‑3 Manifestations of Fragile-X Syndrome

Hallmark features

Elongated face

Prominent ears

Macroorchidism^{^[1]}

Other manifestations

High-arched palate

Flat feet

Hyperextensible joints

Behavioural Characteristics

Attention-deficit

Hyperactivity [2]

Autistic symptoms [3]

Aggressiveness

Intellectual disability [4]

Medical

Seizures [5]

Mitral prolapse

What are the physical features seen in patients with Fragile X syndrome?

Patients with Fragile X syndrome have a high rate of what co-morbidities?

Patients with Fragile X Syndrome have what severity of intellectual disability?

What is the prevalence of Fragile X Syndrome?

Describe the chromosomal aberration in Fragile X syndrome.

[1] an increase in the size of testicles become apparent at age 8 to 10 year and 80% of post-pubertal boys exhibit the feature

[2] Most common behavioural manifestation

[3] Such as hand flapping, hand biting, perseverative speech, shyness, poor eye contact

^{^[4]} Intellectual functioning differs in individuals with fragile-X, ranging from average intelligence to severe intellectual disability. Verbal IQ is more likely to be impaired.

^{^[5]} Most common neurological condition

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