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Information on select rare conditions

Sickle Cell Disease Information

  • A child is born with SCD when he or she gets (inherits) two sickle cell genes – one from each parent. Sickle Cell  Trait (SCT) is when a person inherits only one sickle cell gene.
  • SCD affects millions of people worldwide.
  • Anemia is a common SCD-related health problem, but it can be treated.
  • A bone marrow transplant can cure SCD for certain patients.
  • People with SCD can live long and productive lives with proper medical care and treatment.

Read the infographic below on these 5 SCD facts and share it with friends and family!  

Click on the Sickle Cell Disease National Resource Directory link to find national agencies, specialty care centers, and community-based organizations in the United States that provide services and resources for people affected by SCD.


Turner Syndrome Information

Did you know that Turner Syndrome is the 2nd most common chromosomal disorder affecting women?

Turner Syndrome (TS) is a chromosomal condition that affects females.  It is caused by a partially or completely missing X chromosome and it can cause some abnormalities in the development of females. Turner Syndrome is a treatable complex condition, but will require a lifetime of specialized care, including early interventions and hormone therapy.  

Prevalence:

1 – 3% of fetuses affected by TS will survive birth.  

Turner Syndrome affects approximately 1 in 2,000 to 2,500 live newborn females.  
 

Symptoms and conditions affecting Turner Syndrome girls and women*:

SYMPTOMS

  • Growth / short stature (most common) – affects 95% of TS females
  • Hormone dysfunction (delayed puberty & reproductive sterility)
  • Lymphedema (swelling of hands and feet)
  • Frequent ear infections hearing loss – affects 60% of TS females
  • Social anxiety
  • Attention Deficit Disorders
  • Learning challenges

ISSUES

  • Failure to thrive first year of life – affects 50% of TS females
  • Cardiovascular – affects 42%of TS females
  • Renal
  • Liver
  • Orthopedic
  • Autoimmune
  • Dermatologic
  • Hearing & Vision

 

Turner Syndrome should be suspected when these indications are present:

 

As the only clinical feature:

  • Fetal cystic hygroma, or hydrops, especially when severe Idiopathic short stature
  • Obstructive left-sided congenital heart defecta
  • Unexplained delayed puberty/menarche
  • Couple with infertility
  • Characteristic facial features in a female

 

At least two of the following:

  • Renal anomaly (horseshoe, absence, or hypoplasia)
  • Madelung deformity
  • Neuropsychologic problems, and/or psychiatric issues
  • Multiple typical or melanocytic nevi
  • Dysplastic or hyperconvex nails
  • Other congenital heart defectsc
    Hearing impairment <40 years of age together with short stature

 

For more information about Turner Syndrome, please visit the Turner Syndrome Foundation website at https://turnersyndromefoundation.org/