Disease or Syndrome
rett syndrome
Subclass of:
Mental Retardation, X-Linked
Definitions related to rett syndrome:
-
A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances.NCI ThesaurusU.S. National Cancer Institute, 2021
-
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
-
Progressive disorder affecting the cerebral cortex of females; present from birth; manifested by autistic behavior, ataxia, dementia, seizures, loss of purposeful usefulness of the hands, cerebral atrophy, and mild hyperammonemia.CRISP ThesaurusNational Institutes of Health, 2006
-
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 DevelopmentMedlinePlusU.S. National Library of Medicine, 2021
-
The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.GeneReviewsUniversity of Washington, 2021
-
Rett syndrome is a neurodevelopmental disorder occurring almost exclusively in females that affects development after an initial 6-month period of normal development. Diagnosis is based on clinical observation of symptoms and signs during the child's early growth and development, regular ongoing evaluations of the child's physical and...Merck & Co., Inc., 2020
-
Rett syndrome (RS) is a neurodevelopmental disorder first reported in 1966 by Andreas Rett, an Austrian pediatric neurologist. It occurs almost exclusively in females and has a typically degenerative course.WebMD, 2019
-
Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive loss of motor skills and speech. This disorder primarily affects girls.Mayo Foundation for Medical Education and Research
-
Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include...National Center for Advancing Translational Sciences
-
Rett syndrome, rare progressive neurological disorder characterized by severe intellectual disability, autism-like behaviour patterns, and impaired motor function. The disorder was first described in the 1960s by the Austrian physician Andreas Rett. Today Rett syndrome is classified as a pervasive...Encyclopedia Britannica, Inc., 2020
Return to OpenMD Medical Dictionary
> R
This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.