תסמונת רט

תיאור

Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and about three-quarters have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, spitting or drooling, unusual eye movements such as intense staring or excessive blinking, cold hands and feet, irritability, sleep disturbances, seizures, and an abnormal side-to-side curvature of the spine (scoliosis).

Researchers have described several variant or atypical forms of Rett syndrome, which can be milder or more severe than the classic form.

Rett syndrome is part of a spectrum of disorders with the same genetic cause. Other disorders on the spectrum include PPM-X syndrome, MECP2 duplication syndrome, and MECP2-related severe neonatal encephalopathy. These other conditions can affect males.

Inheritance patterns

The source lists the following possible inheritance patterns: X-linked dominant. More than one pattern can apply in different cases.

Related genes

• MECP2

Other names

Autism-dementia-ataxia-loss of purposeful hand use syndrome

Rett disorder

Rett's disorder

Rett's syndrome

RTT