What is the life expectancy of a person with Shwachman-Diamond Syndrome?

Life expectancy of patients with SDS is expected to be >35 years. However, those with significant haematological abnormalities, including AML, have significant morbidity and mortality and subsequently reduced life expectancy.

How is Shwachman-Diamond Syndrome treated?

The only curative therapy for individuals with Shwachman syndrome is a hematopoietic stem cell transplant (HSCT). Hematopoietic stem cells are specialized cells found in the bone marrow (the soft spongy material found in long bones).

Is Shwachman-Diamond Syndrome fatal?

Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities and short stature….

How common is Shwachman-Diamond Syndrome?

Shwachman-Diamond syndrome is a rare condition that is thought to occur in approximately 1 in 80,000 newborns. Because the signs and symptoms are variable and can be mild in some affected individuals, doctors suspect the condition is underdiagnosed.

What is Gardner Diamond syndrome?

Psychogenic purpura (also referred to as Gardner-Diamond syndrome, autoerythrocyte sensitization, or painful bruising syndrome) is a rare and poorly understood clinical presentation in which patients develop unexplained painful bruises, mostly on the extremities and/or face, during times of stress.

How is Shwachman-Diamond diagnosed?

Doctors diagnose Shwachman-Diamond syndrome (SDS) with: blood work to evaluate red blood cells, white blood cells and platelets. kidney, liver and pancreatic function tests. pancreatic stimulation testing – to measure the ability of the pancreas to respond to secretin, a hormone involved in food absorption.

What is Shwachman-Diamond Syndrome?

Shwachman-Diamond syndrome (SDS) is a rare, inherited bone marrow failure, characterized by a low number of white blood cells, poor growth due to difficulty absorbing food and, in some cases, skeletal abnormalities.

How do you test for Shwachman-Diamond Syndrome?

Doctors diagnose Shwachman-Diamond syndrome (SDS) with:

1. blood work to evaluate red blood cells, white blood cells and platelets.
2. kidney, liver and pancreatic function tests.
3. pancreatic stimulation testing – to measure the ability of the pancreas to respond to secretin, a hormone involved in food absorption.

How rare is Gardner-diamond?

Gardner-Diamond syndrome (GDS) is an extremely rare disorder. An article published in 2015 noted that about 200 cases worldwide have been reported in the literature since GDS was first described in the 1950s. Most cases reported have occurred in women ages 19-72, and mainly in women younger than age 30.

What are the symptoms of Shwachman-Diamond Syndrome?

Shwachman-Diamond Syndrome | Symptoms & Causes

• chronic diarrhea.
• frequent infections due to low white blood cell counts.
• poor growth.
• pale skin.
• lack of energy or tiring easily (fatigue)
• bruising, or a red or purple pinpoint rash on the face or body.
• bleeding (for example bleeding gums, nosebleeds, blood in the stool)