What Is Stromme Syndrome?
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genome.gov/genetics-glossary/Autosomal-Recessive-DisorderCENPF centromere protein F. (2022).
ncbi.nlm.nih.gov/gene/1063Dorum BA, et al. (2017). Stromme syndrome: New clinical features.
ncbi.nlm.nih.gov/pmc/articles/PMC5371687/Filges I, et al. (2020). CUGC for Stromme syndrome and CENPF-related disorders.
ncbi.nlm.nih.gov/pmc/articles/PMC6906375/Indiana Government. (n.d.). Intestinal atresia.
in.gov/health/files/intestinalatresia.pdfMuula GK. (2021). Stromme syndrome, causes & symptoms.
jcmedu.org/jcmedu-articles/stromme-syndrome-causes--symptoms.pdfOzkinay F, et al. (2017). A further family of Stromme syndrome carrying CENPF mutation.
pubmed.ncbi.nlm.nih.gov/28407396/Petter Stromme. (n.d.).
med.uio.no/klinmed/english/people/aca/pettest/Rasmussen SA. (2019). Stromme syndrome; STROMS.
omim.org/entry/243605Rat genome database. (n.d.). Gene: Cenpf (centromere protein F) Rattus norvegicus.
rgd.mcw.edu/rgdweb/report/gene/main.html?id=628667Stromme syndrome. (n.d.).
disorders.eyes.arizona.edu/disorders/strømme-syndromeStromme syndrome. (2022).
ncbi.nlm.nih.gov/gtr/conditions/C1855705/Stromme syndrome. (2022).
ncbi.nlm.nih.gov/medgen/340938Our experts continually monitor the health and wellness space, and we update our articles when new information becomes available. Current Version Oct 19, 2022 By Ashley Marcin Edited By Debbie Nurmi Medically Reviewed By William C Lloyd III, MD, FACS Copy Edited By Kristin Hitchcock Share this articleMedically reviewed by William C Lloyd III, MD, FACS — By Ashley Marcin on October 19, 2022
Understanding Stromme Syndrome
Medically reviewed by William C Lloyd III, MD, FACS — By Ashley Marcin on October 19, 2022Stromme syndrome is a rare genetic disorder that affects various areas of a person’s body, including their intestines, eyes, and skull. This condition was first discovered in 1993 by a Norwegian pediatrician Petter Strømme. While the syndrome may be fatal for some infants, others may go on to have a typical life expectancy. Here’s what you need to know about Stromme syndrome, what causes it, and what the outlook is for children born with this disorder.What is Stromme syndrome
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 CENPF gene. Researchers estimate that Stromme syndrome affects fewer than 1 in 1,000,000 births. More specifically, there have been 13 cases of people with Stromme syndrome discussed in medical literature as of 2019.What are the signs and symptoms of Stromme syndrome
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 earscleft palatewide mouthwide nasal bridgeextra fingers or toes near the thumb or big toeWhat causes Stromme syndrome
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.How is Stromme syndrome diagnosed
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?What is the treatment for Stromme syndrome
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 common among children with Stromme syndrome. The treatment for this condition includes intestinal surgery to address blockages and repair their intestine. Surgery may be necessary soon after birth, depending on your child’s condition, and is generally effective. Otherwise, treatment will be individualized to the child and the symptoms they’re experiencing.Healthcare team
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.What s the outlook for children with Stromme syndrome
Some babies born with Stromme syndrome may not live long. Others may live to adulthood, including a set of sisters who were reported in 2016 to be living in their twenties. The outlook for people with Stromme syndrome depends on the severity of their symptoms, the body systems involved, and the medical care they receive. Researchers note that some people with Stromme syndrome who do live longer lives may have mild cognitive issues. In other words: The outlook for people with Stromme syndrome is individual. Since Stromme syndrome was identified relatively recently, more research is needed to understand the outlook for people with this syndrome.What are the risk factors for Stromme syndrome
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 25% chance of passing the syndrome along to their offspring.The takeaway
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. Last medically reviewed on October 19, 2022How we vetted this article
SourcesHistoryHealthline has strict sourcing guidelines and relies on peer-reviewed studies, academic research institutions, and medical associations. We avoid using tertiary references. You can learn more about how we ensure our content is accurate and current by reading our editorial policy.Autosomal recessive disorder. (2022).genome.gov/genetics-glossary/Autosomal-Recessive-DisorderCENPF centromere protein F. (2022).
ncbi.nlm.nih.gov/gene/1063Dorum BA, et al. (2017). Stromme syndrome: New clinical features.
ncbi.nlm.nih.gov/pmc/articles/PMC5371687/Filges I, et al. (2020). CUGC for Stromme syndrome and CENPF-related disorders.
ncbi.nlm.nih.gov/pmc/articles/PMC6906375/Indiana Government. (n.d.). Intestinal atresia.
in.gov/health/files/intestinalatresia.pdfMuula GK. (2021). Stromme syndrome, causes & symptoms.
jcmedu.org/jcmedu-articles/stromme-syndrome-causes--symptoms.pdfOzkinay F, et al. (2017). A further family of Stromme syndrome carrying CENPF mutation.
pubmed.ncbi.nlm.nih.gov/28407396/Petter Stromme. (n.d.).
med.uio.no/klinmed/english/people/aca/pettest/Rasmussen SA. (2019). Stromme syndrome; STROMS.
omim.org/entry/243605Rat genome database. (n.d.). Gene: Cenpf (centromere protein F) Rattus norvegicus.
rgd.mcw.edu/rgdweb/report/gene/main.html?id=628667Stromme syndrome. (n.d.).
disorders.eyes.arizona.edu/disorders/strømme-syndromeStromme syndrome. (2022).
ncbi.nlm.nih.gov/gtr/conditions/C1855705/Stromme syndrome. (2022).
ncbi.nlm.nih.gov/medgen/340938Our experts continually monitor the health and wellness space, and we update our articles when new information becomes available. Current Version Oct 19, 2022 By Ashley Marcin Edited By Debbie Nurmi Medically Reviewed By William C Lloyd III, MD, FACS Copy Edited By Kristin Hitchcock Share this articleMedically reviewed by William C Lloyd III, MD, FACS — By Ashley Marcin on October 19, 2022