Shwachman-Diamond syndrome is a rare inherited disorder. It happens when genes mutate and primarily affect children’s pancreases, bone marrow and bones. Children with this condition will need life-long medical care, but typically have normal lifespans. Some children, however, may develop blood cancers or serious blood disorders that could be life-threatening.
This condition is a rare inherited disorder that happens when genes mutate and primarily affect children’s pancreases, bone marrow and bones. Most of the time, those with the syndrome are diagnosed before they’re a year old, but it may be diagnosed even in young adults.
Shwachman-Diamond is a challenging disease to diagnose and treat. It causes several different symptoms and children may have one, several or all of the different symptoms. For example, one child may have pancreas and skeletal issues while another may have bone marrow issues and skeletal.
It’s also an unpredictable illness. Children’s symptoms may be mild or severe and may change over time. Most children need a team of medical specialists because Shwachman-Diamond syndrome causes many medical problems. Children with this condition will need life-long medical care, but typically have normal lifespans. However, some children and young adults may develop life-threatening blood cancers or serious blood disorders.
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That’s hard to say. Healthcare providers consider Shwachman-Diamond syndrome as a rare disease but they’re only able to estimate how many children have the syndrome. Estimates cover a wide range from 1 child in every 75,000 births. There’s a wide range of estimates because children may have mild or severe symptoms, may not have the same set of symptoms, and there isn’t a single test for the syndrome.
Unlike some childhood medical problems, children don’t outgrow Shwachman-Diamond syndrome. Syndrome symptoms and treatment may change over time, but children with the syndrome will need life-long medical care.
Shwachman-Diamond syndrome may cause several medical problems but the three most significant are:
This condition affects several parts of your child’s body, but the most common symptoms affect their pancreas, bone marrow and skeletal system. People may have symptoms at birth, during infancy, as young children and a few as young adults.
Children may have the following symptoms:
About 90% of all children who have Shwachman-Diamond syndrome carry a mutated version of the SBDS gene. Studies show people may inherit the mutated gene from both biological parents (autosomal recessive manner) or from one parent and a newly arising mutation. Researchers don’t know why mutations in the SBDS gene cause Shwachman-Diamond syndrome.
Healthcare providers will do physical examinations to evaluate overall health. They’ll assess your child’s height and weight to see if they’re growing at the same rate as children their age. They may do the following tests:
Shwachman-Diamond syndrome may affect your child in several ways. For example, your child may not be able to digest food because of problems with their pancreas, but their bone marrow is fine. Syndrome symptoms may be mild or severe. Healthcare providers consider these differences when treating the condition.
Providers may prescribe oral pancreatic enzymes or fat-soluble vitamins to help your child’s body absorb nutrients and fats.
The syndrome affects your child’s bone marrow, so their bone marrow doesn’t make enough normal neutrophils. Healthcare providers typically don’t treat bone marrow disorders unless your child develops severe complications. Treatments may include:
Most of the time, providers monitor skeletal problems caused by Shwachman-Diamond syndrome. Some children may need orthopaedic surgery if they have severe problems.
It takes a team of specialists to treat Shwachman-Diamond syndrome. Your child’s treatment team may include:
Shwachman-Diamond syndrome is an inherited disorder. If you know you have the syndrome, you may want to consult with a geneticist. If you have biological children with the condition, you may want to consider genetic testing to confirm your children carry the genetic mutation causing Shwachman-Diamond syndrome.
Healthcare providers can’t cure the syndrome. If your child has this condition, they’ll need medical treatment for the rest of their lives.
In a sense, Shwachman-Diamond syndrome is a chronic illness. If your child has this condition, they’ll need regular screenings and tests.
Children with this syndrome may have different medical issues. They may need treatment to help them absorb nutrients and fats. They may be more likely to have frequent infections. They may also have skeletal abnormalities that make them look different from other people.
Regardless of symptoms, children with this syndrome are likely to share a common concern — they’re different. They may need treatment that takes them away from school and other activities. They may look different. As your child grows up, they feel angry and frustrated about being different. Understanding those feelings may help your child manage their feelings. Some children may benefit from talking to mental health specialists. If you’re concerned your child may have issues dealing with their situation, ask your provider for recommendations.
If your child has Shwachman-Diamond syndrome, you should try to be vigilant about changes in your child’s body. Shwachman-Diamond symptoms often change over time. In some cases, those changes may be symptoms of serious complications including blood cancer.
Children’s bodies are constantly changing as they move through infancy, childhood, adolescence (especially adolescence and puberty) and on to young adulthood. Changes may not mean your child has a new disease or more serious symptoms.
Your child will have regular visits with healthcare providers. Those regular visits would be a good time for you to ask questions about changes that could be signs of a potentially serious problem.
Shwachman-Diamond syndrome is a rare disease. Chances are, you didn’t know such a disease existed. Here are some questions you may want to ask your provider:
A note from Cleveland Clinic
Shwachman-Diamond syndrome is a rare inherited disorder that affects children’s ability to thrive, makes them more vulnerable to bacterial infections and causes skeletal abnormalities that may make them look different. Some children will have mild symptoms, but all children with this syndrome will need medical care for the rest of their lives. If your child has Shwachman-Diamond syndrome, you may feel overwhelmed because you don’t know what to expect. If that’s your situation, share your worries with your child’s healthcare providers. They understand what it can be like to worry about and care for a child with a serious and sometimes unpredictable illness. They do more than help your child cope with an illness. They help your child live well, and they’ll be glad to help you to help your child.
Last reviewed by a Cleveland Clinic medical professional on 07/11/2022.
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