Stromme syndrome
Synonyms: Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome | Jejunal atresia-microcephaly-ocular anomalies syndrome
A rare multiple congenital anomalies syndrome usually characterized by microcephaly ocular anomalies such as microphthalmia and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead hypertelorism microphthalmia dysplastic edematous deep-set eyes short palpebral fissures large or low set ears broad nasal root anteverted or broad nasal tip long philtrum micrognathia thin upper vermillion large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart brain craniofacial abnormalities renal hypoplasia and other anomalies (e.g. lower limb edema thrombocytopenia) are variably present. Rarely cases without intestinal atresia microcephaly or developmental delay can be found. Severe lethal cases have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Stromme syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.