Linking China’s Premium Healthcare · Serving Global Health Needs

Breaking down language, channel and process barriers in cross-border care — making the best doctors your personal doctors.
300 Grade-A partner hospitals · 3,000+ leading experts · one-stop service across all specialties

Consult Now How It Works

One-Stop Medical Care in China

International flights · Airport pickup · Nearby hotels
Multilingual interpreters · Full medical escort
Expert matching · Hospital fast-track
Full-cycle treatment · Post-op follow-up

Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Fragile X syndrome

小儿内科

Common symptoms

抽风、语言发育迟缓、耳朵位置低、构音障碍、抑郁、学习困难、小指单一褶纹

The pathology of disease

Fragile X syndrome is inherited intellectual disability; FMR1 CGG repeat; boys; long face; large ears; macroorchidism; autism features; supportive; genetics.

Symptoms

Intellectual disability; long face; large ears; macroorchidism; autism features; boys; family history; CGG expansion

Causes

FMR1 CGG trinucleotide repeat; X-linked; fragile X; premutation in carrier mothers.

Treatment

Special education; speech/OT; treat autism features; genetics counseling; no cure

Dept

Pediatrics / developmental pediatrics / genetics.

Warm reminder: Health education reference only; seek care at regular hospital.

Family room

小儿内科Overview of the Western Medical Room