Shprintzen-Goldberg Syndrome

What is Shprintzen-Goldberg syndrome?

Shprintzen-Goldberg syndrome (SGS) is a rare genetic disorder that affects several parts of your body. People with the syndrome often have:

• Abnormal facial features.
• Craniosynostosis (when the skull bones fuse too early during fetal development).
• Skeletal abnormalities.
• Neurological problems, such as intellectual disability or developmental delays.
• Cardiovascular deformities.

It’s also called marfanoid-craniosynostosis syndrome and Shprintzen-Goldberg craniosynostosis syndrome.

How common is SGS?

Shprintzen-Goldberg syndrome is rare. Scientists aren’t sure how many people have the disorder. There are fewer than 50 cases described in medical literature.

It’s not uncommon for experts to misdiagnose the condition because it’s similar to Marfan syndrome and to Loeys-Dietz syndrome. That complicates estimates of how many people are actually affected.

What’s the difference between Shprintzen-Goldberg syndrome, Marfan syndrome and Loeys-Dietz syndrome?

The signs and symptoms of Shprintzen-Goldberg syndrome are similar to those of Marfan syndrome and Loeys-Dietz syndrome. But these three disorders are caused by different genetic mutations.

People with SGS are more likely to have an intellectual disability. They’re less likely to have heart abnormalities.

What causes Shprintzen-Goldberg craniosynostosis syndrome?

Mutations (changes) in the SKI gene cause most cases of SGC. The gene helps create a protein important in cell growth, division, movement, maturation and death.

SKI protein is in many tissues throughout your body. That explains why Shprintzen-Goldberg syndrome has a wide range of potential symptoms.

Other cases of SGC don’t involve an SKI gene mutation. Scientists don’t currently understand what else causes the condition.

Is Shprintzen-Goldberg syndrome inherited?

Most cases of Shprintzen-Goldberg syndrome are not inherited. The gene mutation usually occurs spontaneously (randomly) during fetal development. Most people with the disorder have no family history of it.

Rarely, parents can pass the condition on to their children. When it’s inherited, it’s an autosomal dominant condition. That means you only need to inherit one copy of the mutated gene from one parent who carries the mutation.

What are the symptoms of Shprintzen-Goldberg syndrome?

Signs and symptoms of Shprintzen-Goldberg syndrome vary widely. They can range from mild to severe, and they may affect several different body parts.

When your skull bones fuse too early (craniosynostosis), this can cause:

• Long, narrow head.
• Widely spaced eyes that may protrude (stick out) or slant downward.
• High, narrow palate (roof of the mouth).
• High, prominent forehead.
• Small lower jaw.
• Low-set ears that may be rotated backward.

Other skeletal abnormalities may include:

• Ability to move the joints beyond the normal range of motion.
• Clubfoot.
• Chest that sticks out or appears to sink in.
• Curved spine (scoliosis).
• Fingers that are permanently bent (camptodactyly).
• Long arms and legs.
• Long, skinny fingers (arachnodactyly).

Some people with SGS may also experience:

• Brain abnormalities, such as excess fluid in the brain (hydrocephalus).
• Developmental delays and mild to moderate intellectual disability.
• Gastrointestinal (digestive) problems such as constipation or gastroparesis.
• Abdominal or umbilical hernias.
• Skin that seems almost see-through and bruises easily.
• Trouble breathing.
• Weak muscle tone (hypotonia).

More rarely, cardiac (heart) issues may include:

• Aortic aneurysm.
• Aortic regurgitation, when the aortic valve doesn't close tightly.
• Aortic root dilation, when the first section of your aorta is enlarged.
• Leaky heart valve (mitral valve regurgitation).
• Mitral valve prolapse.

How is Shprintzen-Goldberg syndrome diagnosed?

SGS diagnosis is difficult. The condition is underdiagnosed, and it’s often confused with Marfan syndrome or Loeys-Dietz syndrome.

A healthcare provider makes the diagnosis based on the presence of signs and symptoms. Genetic testing may confirm the SKI genetic mutation, but no other tests are useful in diagnosis.

How is Shprintzen-Goldberg syndrome treated?

There’s no cure for this disorder. Treatment for Shprintzen-Goldberg syndrome aims to manage symptoms and help individuals live a full life.

Treatments may include:

• Braces on the feet or spine for better walking.
• Feeding tube to ensure proper nutrition.
• Medications to treat heart problems.
• Surgery to repair heart defects or correct skeletal problems in the skull, spine or chest.
• Tracheostomy (a surgical opening in the front of the neck) if a structural abnormality is blocking the airway.

Your healthcare provider also may recommend tests every year or two to assess any changes, such as:

• Bone density test.
• Echocardiogram to monitor the heart.
• Magnetic resonance angiography (MRA) or computed tomography angiography (CTA) to examine blood vessels.
• X-rays to detect any skeletal changes.

Care of a person with Shprintzen-Goldberg syndrome may involve a team of specialists, including:

• Cardiologist (heart).
• Craniofacial surgeon (bones of the head and face).
• Geneticist.
• Neurosurgeon (brain).
• Occupational therapist (to improve performance with daily activities).
• Ophthalmologist (myopia).
• Oral surgeon (teeth and jaw).
• Orthopedic surgeon (bones, joints and spine).
• Pediatrician.
• Physical therapist (to improve movement).
• Psychologist.
• Radiologist (medical imaging).
• Speech therapist.

How can I prevent Shprintzen-Goldberg syndrome?

There’s no way to prevent the gene mutation that leads to Shprintzen-Goldberg syndrome. Scientists don't yet understand what the other causes are.

What’s the outlook with Shprintzen-Goldberg syndrome?

The prognosis for people with Shprintzen-Goldberg syndrome depends on how severe the condition is. In mild cases, the condition may not affect life expectancy. But more severe cases involving the brain, heart or digestive system can shorten your lifespan.

What else should I ask my doctor about Shprintzen-Goldberg syndrome?

If your child has Shprintzen-Goldberg syndrome, consider asking your healthcare providers the following questions:

• Was this genetic mutation inherited or spontaneous?
• What body systems does this condition affect?
• What treatment does my child need?
• What signs or symptoms should prompt immediate medical attention?
• Will my child have developmental delays or intellectual disability?
• Will this condition shorten my child’s lifespan?
• What specialists should we see and how often?
• Should my child get regular tests to check their bones, heart, blood vessels and brain?
• Are there any support groups that can help us cope with this condition?
• Do you recommend genetic counseling or testing?

A note from Cleveland Clinic

Shprintzen-Goldberg syndrome is a rare genetic disorder that affects several body parts. The condition often causes abnormal facial features, skeletal abnormalities and intellectual disability. Being told that your child has SGS can bring many emotions. It’s important to ask your healthcare provider for resources that can help. If your child has symptoms of a genetic disorder, talk to a specialist for an accurate diagnosis.