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Last updated: 11/12/2024
Years published: 2006, 2011, 2014, 2024
NORD gratefully acknowledges Gioconda Alyea, MD (FMG), MS, National Organization for Rare Disorders and Joseph Levy, MD, Director, Special Projects, Division of Gastroenterology, Professor of Pediatrics, NYU School of Medicine, for assistance in the preparation of this report.
Levy-Yeboa syndrome (LYS) is a very rare genetic condition characterized by a combination of muscular and bone abnormalities, skin (dermatological) issues, hearing loss and gastrointestinal distress. Musculoskeletal signs include low muscle tone and stiffened joints in the arms and legs (contractures). Other key symptoms are deafness, burn-like bullous eruptions on the skin filled with clear fluid, and secretory diarrhea, which involves the substantial loss of fluids and electrolytes, posing a serious health risk. Children with Levy-Yeboa syndrome appear to have a blank expression on their face. This is due to the low tone of the muscles that normally reflect emotions.
Most, if not all, symptoms are typically apparent at birth (congenital) or within the first few months of life.
LYS may be part of the disease spectrum of very early onset inflammatory bowel disease (VEO-IBD), which is also associated with hearing loss and immune dysregulation and may be caused by changes (pathogenic variants) in the STXBP3 gene. Inheritance semes to be autosomal recessive.
There are only a few reports about Levy-Yeboa syndrome (LYS) in the medical literature. The reported signs and symptoms include:
The cause of Levy-Yeboa syndrome remains unknown.
Recent reports suggest that LYS may be part of the disease spectrum of very early onset inflammatory bowel disease (VEO-IBD), which is also associated with hearing loss and immune dysregulation. These cases of LYS are caused by changes (pathogenic variants) in the STXBP3 gene that plays a role in immune function.
However, it is not known if all the cases of LYS are caused by variants in this gene.
Levy-Yeboa syndrome (LYS) is a very rare condition and there are too few reported cases to know the incidence or prevalence of the disorder.
As this syndrome becomes better and more widely known, more cases of LYS may be reported in the medical literature.
Levy-Yeboa syndrome (LYS) is a very rare condition and there are no guidelines for the diagnosis or any test that can confirm it. The diagnosis is based on the clinical picture presented in the child’s first few weeks or months. A late decrease in fetal movement may raise suspicions or concerns regarding Levy-Yeboa syndrome. The combination of major symptoms, myopathy, deafness, skin eruptions and recurrent, massive, watery stools may lead a doctor to suspect the diagnosis. Genetic testing confirming variants in the STXBP3 gene may also be helpful for the diagnosis in the setting of the major symptoms.
Treatment
The management of infants and children with Levy-Yeboa syndrome (LYS) is demanding since so many different organ systems are affected and the reported patients are so young.
Based on the reported cases of Levy-Yeboa syndrome (LYS), treatment may include:
The intellectual and verbal skills of affected people have appeared to be normal and their musculoskeletal symptoms have improved over the years because of intensive physical, educational and speech therapy. The three children that were reported in the medical literature attend regular school where they are active and social as they are at home. After age 2 years their rate of hospitalization has decreased significantly. The intensity and frequency of the secretory diarrhea episodes tends to get better over time. However, when it reappears, management is challenging as stool volume losses are remarkable.
Also, there may be some improvement in the bland, blank facial expressions of the affected individual as they grow older.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact: www.centerwatch.com
For information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/
JOURNAL ARTICLES
Ouahed J, Kelsen JR, Spessott WA, et al. Variants in STXBP3 are associated with very early onset inflammatory bowel disease, bilateral sensorineural hearing loss and immune dysregulation. J Crohns Colitis. 2021;15(11):1908-1919. doi:10.1093/ecco-jcc/jjab077
Levy J, Chung W, Garzon M, Gallagher MP, Oberfield SE, Lieber E, Anyane-Yeboa K. Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: a new genetic syndrome? Am J Med Genet A. 2003;116:20-25.
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