Rett Syndrome (RTT)

External Ids:

MedlinePlus Genetics: ⁴² 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.

MalaCards based summary: Rett Syndrome, also known as atypical rett syndrome, is related to developmental and epileptic encephalopathy 2 and chromosome 16p13.3 deletion syndrome, proximal, and has symptoms including tremor, constipation and back pain. An important gene associated with Rett Syndrome is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Signal Transduction and ESR-mediated signaling. The drugs Risperidone and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are eeg abnormality and sleep disturbance

Orphanet ⁵⁸ Rett syndrome: A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements, loss of speech, gait abnormalities, and stereotypic hand movements, commonly associated with deceleration of head growth, severe intellectual disability, seizures, and breathing abnormalities. The disorder has a progressive clinical course and may associate various comorbidities including gastrointestinal diseases, scoliosis, and behavioral disorders.

Atypical rett syndrome: A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.

NINDS: ⁵² Rett syndrome is a rare childhood neurological and developmental disorder that almost exclusively affects females. Infants appear to develop normally for the first several months before development stalls (typically between the ages of 6-18 months). Early symptoms include: • loss of muscle tone • slowing of development • difficulty feeding • jerkiness in arm and leg movement • reduced eye contact and eye gaze. The child then begins to lose or have regression of previously gained skills, including: • the ability to socialize and speak • purposeful use of the hands • the ability to walk. Other symptoms may include: • slowed growth • seizures • intellectual disabilities • problems with breathing • scoliosis (curvature of the spine) • behavioral problems. Symptoms usually stabilize between ages 3-5 years. Social interactions continue to improve into adulthood but motor function and movement gradually decline and muscles become increasingly weak.

MedlinePlus: ⁴¹ Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include: Loss of speech Loss of hand movements such as grasping Compulsive movements such as hand wringing Balance problems Breathing problems Behavior problems Learning problems or intellectual disability Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives. NIH: National Institute of Child Health and Human Development

GARD: ¹⁹ Atypical Rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of Rett syndrome but does not meet all the diagnostic criteria. Like the classic form of Rett syndrome, Atypical Rett syndrome mostly affects girls. Children with Atypical Rett syndrome can have symptoms that are either milder or more severe than those seen in Rett syndrome. Diagnosis relies on clinical evaluation using the diagnostic criteria for Atypical Rett syndrome which was defined by Hagberg in 1994. Molecular genetic testing may confirm the diagnosis.

UniProtKB/Swiss-Prot: ⁷³ An X-linked dominant neurodevelopmental disorder, and one of the most common causes of intellectual disability in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, intellectual disability and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.

OMIM®: ⁵⁷ Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by arrested development between 6 and 18 months of age, regression of acquired skills, loss of speech, stereotypic movements (classically of the hands), microcephaly, seizures, and mental retardation. Rarely, classically affected males with somatic mosaicism or an extra X chromosome have been described (Moog et al., 2003). (312750) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

Wikipedia: ⁷⁵ Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6-18 months of age and... more...

Clinical features from OMIM®:

Search NIH Clinical Center for Rett Syndrome