Short stature mental retardation eye defects

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Short Stature, Mental Retardation, and Eye Defects
SpecialtyPediatrics, Medical genetics
SymptomsShort stature, intellectual disability, eye defects
Usual onsetBirth or early childhood
DurationLifelong
CausesGenetic mutations
Risk factorsFamily history of similar conditions
Diagnostic methodPhysical examination, genetic testing
TreatmentSupportive care
PrognosisVaries
FrequencyRare


Short Stature, Mental Retardation, and Eye Defects is a rare genetic disorder characterized by a combination of short stature, intellectual disability, and various eye abnormalities. This condition is caused by mutations in specific genes, which can vary among affected individuals. The diagnosis is typically made through a combination of physical examination and genetic testing. Treatment focuses on managing symptoms and providing supportive care.

Symptoms and Signs[edit | edit source]

Individuals with this condition commonly present with:

  • Short stature: Height significantly below average for age and sex.
  • Intellectual disability: Varying degrees of learning difficulties or cognitive impairment.
  • Eye defects: These can include cataracts, strabismus (misaligned eyes), microphthalmia (abnormally small eyes), or other structural abnormalities.

Causes[edit | edit source]

The condition is genetic, often resulting from mutations in specific genes. These mutations can be inherited in an autosomal recessive or autosomal dominant manner, though de novo mutations are also possible.

Diagnosis[edit | edit source]

Diagnosis involves a thorough physical examination, assessment of medical history, and genetic testing to identify specific mutations. Eye examinations by a specialist may also be necessary to characterize the extent of eye defects.

Treatment[edit | edit source]

There is no cure for this condition. Treatment is symptomatic and supportive, including:

  • Educational support and special learning programs for intellectual disability.
  • Regular monitoring and treatment for eye defects, which may include glasses, surgery, or other interventions.
  • Growth hormone therapy may be considered in some cases to address short stature.

Prognosis[edit | edit source]

The prognosis for individuals with Short Stature, Mental Retardation, and Eye Defects varies depending on the severity of symptoms and the effectiveness of management strategies. With appropriate support, many affected individuals can lead fulfilling lives.

See also[edit | edit source]

Short stature mental retardation eye defects Resources
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Contributors: Prab R. Tumpati, MD