List of Common Symptoms

Here is a list of the common symptoms that may be experienced by those affected by Fragile X Syndrome. Intellectual disability of one degree or other is common to all affected individuals but other symptoms vary from person to person. Not everyone with Fragile X has the same signs and symptom or to the same degree. Affected females tend to suffer less from the symptoms present in males but may have their own particular issues.

Development Delays

  • Crawling
  • Speech
  • Sitting
  • Walking
  • Toilet Training

Possible Physical Features

  • Chest with a “hollow” look
  • A squint or “turn” in the eye
  • Eyelids that tend to puffiness
  • Elongated face – long forehead and jaw (more evident after puberty)
  • Flat feet (pes planus)
  • High arched palate
  • Hyper-extensible joints
  • Large testicles (evident after puberty)
  • Low muscle tone
  • Prominent ears
  • Single Palmar Crease – WIkipedia description

Possible Behavioral Symptoms

  • Anxiety and shyness
  • Attention deficit disorders and hyperactivity
  • Autism and autistic-like behavior *
  • Chewing of Clothes
  • Concentration Difficulties
  • Eye Contact difficulties
  • Fixed interests in certain subjects
  • Dislike of change in routine
  • Hand biting and hand-flapping
  • Hyperactivity and short attention span
  • Inability to control emotions
  • Impulsivity
  • Perseveration – repetition of the same actions or words
  • Poor eye contact
  • Disturbed sleep
  • Tantrums or other emotional outbursts.

* Autistic symptoms and autistic-like behaviors include many of the other symptoms listed above.

Possible Medical Issues

  • Eyes – squint (strabismus), long sightedness and visual perceptual problems.
  • Epilepsy (about one in four)
  • Ear Infections
  • Hernia
  • Joints subject to dislocation
  • Mitral Valve Prolapse – Wikipedia description
  • Hyper sensitivity of the senses (sound, smell, touch)

Possible Symptoms common to affected females

  • Shyness and Moodiness
  • Lack of social skills
  • Avoidance of social contact
  • Depression and anxiety.
  • Refusing to talk in certain situations (selective mutism).

Female Carriers

Unaffected by the symptoms above but may suffer from

  • Premature Menopause

Male Carriers

Older male carriers may suffer from

  • FXTAS – Fragile X-associated Tremor/Ataxia Syndrome

Please read the individual sections of the About Fragile X pages for more details.