What is Shwachman syndrome?
What is Shwachman syndrome?
Shwachman-Diamond syndrome (SDS) is a rare, inherited type of bone marrow failure. It usually affects the pancreas and bone marrow, but it also may have an impact on the skeletal system. Sometimes other parts of the body including the liver and teeth may be involved.
What is the ICD 10 code for Shwachman-Diamond Syndrome?
| Entry | H00439 Disease |
|---|---|
| Other DBs | ICD-11: 3A70.0 ICD-10: D61.0 MeSH: C537330 OMIM: 260400 617941 |
| Reference | PMID:19327581 |
| Authors | Burroughs L, Woolfrey A, Shimamura A |
| Title | Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. |
How common is Shwachman-Diamond Syndrome?
Frequency. 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.
Is Shwachman-Diamond Syndrome fatal?
Many affected individuals have problems with bone formation and growth, most often affecting the hips and knees. Low bone density is also frequently associated with this condition. Some affected infants are born with a narrow rib cage and short ribs, which can cause life-threatening problems with breathing.
How long can you live with SDS?
It is a rare disorder with a reported incidence of 1 in 75,000 individuals. Patients generally present in infancy. Life expectancy into the third and fourth decades of life is reported in the literature. There is a higher incidence of males affected with a male to female ratio of 1.7:1.
How rare is SDS?
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.
How common is Shwachman Diamond Syndrome?
How do you treat a Shwachman Diamond?
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).
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.
