Stromme syndrome

Stromme Syndrome is a rare genetic disorder first described by the Norwegian pediatrician, Pål Stromme in 1993. It is characterized by a combination of medical anomalies, including microcephaly, intestinal atresia, and ocular anomalies.

Clinical Features

The clinical features of Stromme Syndrome are diverse and can vary significantly among affected individuals. The most common features include:

• Microcephaly: This is a condition where the head circumference is significantly smaller than normal due to abnormal brain development.

• Intestinal atresia: This is a congenital condition where a part of the intestine is narrowed or completely closed off. In Stromme Syndrome, the condition most commonly affects the jejunum, the middle part of the small intestine.

• Ocular anomalies: These can include a range of eye abnormalities such as microphthalmia (small eyes), coloboma (a gap in a part of the eye), and nystagmus (involuntary eye movement).

Genetics

Stromme Syndrome is caused by mutations in the CENPF gene, which is located on the long arm of chromosome 1 (1q41). The CENPF gene provides instructions for making a protein that is involved in cell division. Mutations in this gene disrupt the normal process of cell division, leading to the various features of Stromme Syndrome.

Diagnosis

Diagnosis of Stromme Syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the CENPF gene.

Treatment

Treatment of Stromme Syndrome is symptomatic and supportive, focusing on the specific symptoms in each individual. This may include surgical intervention for intestinal atresia, and supportive therapies for microcephaly and ocular anomalies.

Prognosis

The prognosis for individuals with Stromme Syndrome varies depending on the severity of the symptoms. With appropriate treatment and management, individuals with Stromme Syndrome can lead fulfilling lives.

See Also

• Genetic disorders
• Microcephaly
• Intestinal atresia
• Ocular anomalies

NIH genetic and rare disease info

• NIH info on Stromme syndrome

Stromme syndrome is a rare disease.

Stromme syndrome Resources
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