Rett syndrome is a neurodevelopmental disorder that almost exclusively affects girls. The disease can be classified into different types based on the location and type of the genetic mutations causing it, and on the severity, onset, and symptomatic differences in developmental abnormalities.
Most cases of Rett syndrome are caused by mutations in the MECP2 gene but there are other genetic mutations that also have been associated with the disease.
Congenital Rett syndrome, also known as the Rolando variant, is a variant of atypical Rett syndrome caused by mutations in the FOXG1 gene. Some physicians now classify this disease as a separate entity called FOXG1 syndrome.
How congenital Rett syndrome is different from classical Rett syndrome
The main difference between classical Rett syndrome and congenital Rett syndrome is the age of onset. In contrast to classical Rett syndrome, where symptoms become noticeable at ages 6–18 months, symptoms in the congenital variant become evident within the first three months.
In contrast to classical Rett syndrome, which is almost exclusively present in females, congenital Rett syndrome can equally affect males because the genetic mutation causing the disease is located on an autosome.
Symptoms of congenital Rett syndrome
The congenital variant of the disease shares several features with classical Rett syndrome, but patients do not meet the full diagnostic criteria.
The congenital variant is characterized by stunted physical and mental development, resulting in delays in reaching developmental milestones, progressive decrease in head diameter (microcephaly) evident within the first four months of life, and jerking movement of the arms and legs.
An abnormal, involuntary protrusion and repetitive movement of the tongue (tongue stereotypies), inability to walk, mental retardation, general irritability, and poor social and language skills resembling autism are some of the other symptoms seen in the congenital variant of Rett syndrome.
Poor eye contact and atypical and repetitive hand movements are also frequently observed in the congenital variant of Rett syndrome. These stereotypical hand motions involve repeated and involuntary movements that resemble hand washing and licking of hands (hand mouthing).
Scoliosis (abnormal curvature of the spine) is observed in older patients.
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