Stromme syndrome is a
Here’s what you need to know about Stromme syndrome, what causes it, and what the outlook is for children born with this disorder.
Stromme syndrome is considered an autosomal recessive congenital disorder. This means that a person inherits two abnormal genes during conception — one from each parent. In this case, the syndrome is caused by genetic mutations to the person’s
Researchers estimate that Stromme syndrome affects fewer than
Stromme syndrome primarily impacts a person’s intestines, eyes, and skull. No two people with the syndrome may show exactly the same signs and symptoms, however.
- Intestinal anomalies: Intestinal anomalies include intestinal atresia (apple peel syndrome), where the small intestine isn’t fully formed and wraps around the blood supply to the colon.
- Eye anomalies: Eye anomalies include:
- Epicanthus: Epicanthus is a fold of skin on the eyelid that may cover the inner corner of the eye or eyes.
- Microcornea: Microcornea is a condition where the cornea (the part that covers the iris and pupil) of the eye or eyes is small.
- Microphthalmia: Microphthalmia is a condition where one or both eyes are smaller than what is typical.
- Ptosis: Ptosis is a condition where the upper eyelid may droop over the eye.
- Sclerocornea: Sclerocornea is a congenital developmental abnormality where the white sclera (white of the eye) extends beyond its normal boundaries onto the clear cornea, reducing some or all of the corneal transparency.
- Cranial anomalies: Cranial anomalies include microcephaly or a head that’s smaller than average.
- Cardiac anomalies: Cardiac anomalies include congenital heart defects.
- Renal anomalies: Renal anomalies include renal (kidney) parenchymal changes and hydronephrosis.
- Other anomalies: Other anomalies include low platelet count, edema in the lower extremities, hydrocephalus, neuromuscular issues, and cerebellar hypoplasia.
Physical features associated with Stromme syndrome include:
- low-set ears
- cleft palate
- wide mouth
- wide nasal bridge
- extra fingers or toes near the thumb or big toe
Humans have two copies of each gene that they inherit from their parents during conception. Stromme syndrome is caused by mutations to one gene carried by each parent.
While each parent is considered a carrier of the syndrome, neither displays symptoms because their single healthy gene copy overrides the recessive/mutated gene.
With Stromme syndrome, the affected infant inherits two copies of the mutated CENPF gene, one from each parent. The CENPF gene is responsible for producing a protein called centromere protein F. The disruption to this protein ultimately impacts cell division in the infant’s body during fetal development and results in the various health issues and physical characteristics associated with the syndrome.
A doctor or healthcare professional diagnoses Stromme syndrome by observing the different symptoms and features of the syndrome at a person’s birth. Genetic testing (through a blood test) can confirm the diagnosis.
A doctor may also observe signs of intestinal atresia, microcephaly, eye issues, or other characteristics of Stromme syndrome during pregnancy through a routine ultrasound scan, or they may choose to order additional tests such as a more detailed ultrasound or magnetic resonance imaging (MRI) scan.
Questions for your doctor
Finding out your child has a rare genetic disorder can be overwhelming. A doctor can help answer your questions and point you to others for additional support.
Questions to get you started:
- How does my child’s condtion affect the rest of my pregnancy and delivery?
- What testing or observation might be needed after my baby is born?
- What long-term health issues may my child have?
- What long-term development issues might my child have?
- What type of regular medical care/developmental support might my child need?
- What are our chances of having another child with Stromme syndrome?
- Where can I find support for families of children with rare disorders?
There’s no cure for Stromme syndrome. Treatment is targeted at the different symptoms a child has and on improving their quality of life.
Intestinal atresia is
Otherwise, treatment will be individualized to the child and the symptoms they’re experiencing.
Your child will likely be referred to a children’s hospital where there’s specialized pediatric care. A number of doctors may consult on your child’s case, including:
- Perinatologist: Perinatologistsprovide care before the baby is born.
- Pediatrician: A pediatricianis responsible for providing overall healthcare for a child.
- Neurologist: Neurologists provide care for conditions affecting the brain and nervous system.
- Gastroenterologist: A gastroenterologist treats health conditions of the intestines.
- Ophthalmologist: An ophthalmologist provides care for conditions of the eyes.
- Cardiologist: A cardiologist treats conditions affecting the heart.
- Nephrologist: A nephrologist treats conditions affecting the kidneys.
- Geneticist: A geneticist is responsible for testing for and diagnosing genetic conditions.
Researchers note that
There are no environmental risk factors associated with Stromme syndrome. Instead, it’s a genetically inherited condition. This means it may run in families. The abnormality must be passed along when the sperm meets the egg during fertilization.
If you or your partner have a family history of the syndrome, your child may be at higher risk. Two carriers have a
Stromme syndrome is a rare genetic disorder that has only been recognized for around 30 years. Much of what researchers know is based on available case reports of the few people living with the syndrome.
Surgery can effectively address the common intestinal issues associated with the syndrome. For any other symptoms, you’ll work with a medical team for an individual approach to help your child thrive.