Shwachman-Diamond syndrome (SDS)

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.


What is Shwachman-Diamond syndrome (SDS)?

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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Is this a common illness?

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.

Can adults get Shwachman-Diamond syndrome (SDS)?

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.

How does this condition affect my child’s body?

Shwachman-Diamond syndrome may cause several medical problems but the three most significant are:

  • Exocrine pancreatic insufficiency: Your child’s pancreas is an organ located in the back of your child’s belly (abdomen). It has cells that produce enzymes that help break food down into essential nutrients and fats your child’s body can absorb. These are acinar cells. In Shwachman-Diamond syndrome, your child’s pancreas doesn’t make enough enzymes to break down food, so your child doesn’t get the nutrition they need.
  • Impaired bone marrow function: Your child’s bone marrow produces red blood cells, white blood cells and platelets. In Shwachman-Diamond syndrome, your child’s bone marrow produces fewer normal blood cells than usual. In particular, their bone marrow doesn’t produce enough normal neutrophils. Neutrophils are white blood cells. Normally, neutrophils defend your child’s body from invaders like bacteria. Some children with Shwachman-Diamond syndrome don’t have enough normal neutrophils to fend off bacterial intruders. This condition is neutropenia. Children with neutropenia have frequent bacterial infections such as pneumonia, middle ear infections (otitis media) or skin infections (cellulitis).
  • Skeletal abnormalities:Children with Shwachman-Diamond syndrome may have scoliosis (curvature of their spine), unusually short arm and leg bones (chondrodysplasia) or unusually narrow, bell-shaped chests (thoracic dystrophy).

What are the complications of Shwachman-Diamond syndrome?

People with this syndrome have an increased risk of developing abnormal blood cells (myelodysplasia) that may become acute myeloid leukemia.


Symptoms and Causes

What are the symptoms of Shwachman-Diamond syndrome?

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.

Common symptoms

Children may have the following symptoms:

  • Failure to thrive: Failure to thrive happens when your baby doesn’t gain weight. In Shwachman-Diamond syndrome, failure to thrive may mean your baby isn’t gaining weight because they can’t digest food.
  • Fatigue: A baby with fatigue may be irritable or lethargic.
  • Large, greasy poops (bowel movements): Your baby may have unusually large poops that look greasy and smell bad.
  • Serious infections: Bacterial infections that keep coming back may be a symptom of Shwachman-Diamond syndrome.
  • Noticeable differences in their arm and leg bones: Babies’ arms and legs may be short when compared to their torsos.

What causes Shwachman-Diamond syndrome?

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.


Diagnosis and Tests

How do healthcare providers diagnose this condition?

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:

Management and Treatment

How do healthcare providers treat this condition?

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.

Exocrine pancreatic insufficiency

Providers may prescribe oral pancreatic enzymes or fat-soluble vitamins to help your child’s body absorb nutrients and fats.

Impaired bone marrow function

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:

  • Blood transfusions: Blood transfusions increase blood cell levels.
  • Platelet transfusions: Platelet transfusions increase platelet levels, which may help with bleeding problems.
  • Granulocyte-colony stimulation factor (G-CSF): This treatment boosts the number of neutrophils in your child’s white blood cells.
  • Stem cell transplantation: Some people with Shwachman-Diamond syndrome develop blood cancer or severe blood disorders. Providers may treat these disorders with stem cell transplantations.

Skeletal abnormalities

Most of the time, providers monitor skeletal problems caused by Shwachman-Diamond syndrome. Some children may need orthopaedic surgery if they have severe problems.

What healthcare providers treat this condition?

It takes a team of specialists to treat Shwachman-Diamond syndrome. Your child’s treatment team may include:

  • Pediatricians: These physicians treat newborns, children, adolescents, and young adults. Your child’s pediatrician may be the first person to recommend tests to confirm your child has Shwachman-Diamond syndrome.
  • Endocrinologists: These physicians specialize in the endocrine system, which plays a role in your child’s growth.
  • Hematologists: These physicians specialize in blood disorders, including disorders that affect your child’s blood cells.
  • Gastroenterologists: These physicians may help treat your child’s digestive issues.
  • Geneticists: Shwachman-Diamond syndrome is a genetic disorder. These physicians, or genetic counselors, will arrange for the genetic analysis to confirm your child’s condition. They may also do tests on you and some of your child’s biological family members.
  • Orthopaedic specialists: Your child may see an orthopaedic specialist if they have skeletal issues that require surgery.


How can I prevent this?

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.

Outlook / Prognosis

Is there a cure for 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.

Living With

What’s it like to live with Shwachman-Diamond syndrome?

In a sense, Shwachman-Diamond syndrome is a chronic illness. If your child has this condition, they’ll need regular screenings and tests.

  • Complete blood counts with white blood cell differential and platelet counts: Providers may do these tests every three to six months.
  • Bone marrow examinations: Hematologists may do these tests once a year up to every three years.
  • Blood tests for vitamins: Physicians may measure the amount of vitamins in your child’s blood to see if pancreatic enzyme therapy is working.
  • Bone densitometry: Physicians may check bone density before your child enters puberty and during puberty.
  • X-rays: They may do X-rays to look for problems with your child’s hips and knees, particularly during growth spurts.
  • Developmental assessment: Some children with Shwachman-Diamond syndrome have developmental issues, such as attention deficit disorder. Physicians may assess development every six months from birth to age 6 and growth every six months.
  • Neuropsychological testing and assessment: Shwachman-Diamond syndrome may cause conditions like attention deficit disorder or pervasive developmental disorder. Providers may recommend regular assessments when your child is age 6-8 years, 11-13 years and 15-17 years.

How do I help my child cope with this disorder?

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.

When should I see my healthcare provider?

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.

What questions should I ask my healthcare provider?

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:

  • Why does my child have this syndrome?
  • Do they have a mild or severe form of the syndrome?
  • How does the syndrome affect my child?
  • What are treatments?
  • Will my child’s symptoms get worse?
  • Should my child’s biological sibling have genetic testing?
  • Should I and the other biological parent have genetic testing?
  • How can I help my child manage treatment?

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.

Medically Reviewed

Last reviewed on 07/11/2022.

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