II. Epidemiology

  1. Most frequent cause of mental Disability in girls (1 in 10,000 to 15,000)

III. Pathophysiology

  1. Neurodevelopmental disorder
  2. X-linked trait and affects only girls in the vast majority of cases (very rare in boys)
    1. MECP2 Gene mutation (95% occur at methyl CpG-binding Protein)

IV. Signs

  1. Regression of previously acquired skills
  2. Decreased head growth
  3. Speech loss
  4. Gait Abnormality
  5. Loss of purposeful hand movement
    1. Replaced by repetitive movements (e.g. hand wringing)
  6. Seizures

V. Differential Diagnosis

  1. Cerebral Palsy
  2. Autism
  3. Angelman Syndrome

VI. Resources

  1. Rett Syndrome Research Trust
    1. https://reverserett.org/

VII. References

  1. Bollu (2019) Stat Pearls +PMID: 29489169

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Related Studies

Ontology: Rett Syndrome (C0035372)

Definition (MSHCZE) Syndrom charakterizovaný pomalým a abnormálním vývojem zdánlivě zdravě narozených děvčátek; v 6. až 18. měsíci života se zastavuje vývoj, obvod lebky roste pomalu, mizí svalový tonus, začínají neúčelné pohyby a záchvaty, může se vyvinout skolióza. Je atrofie mozku, hyperamonemie, progredující demence. Dědičnost je zřejmě dominantní s vazbou na X chromozom. (cit. Velký lékařský slovník online, 2012 http://lekarske.slovniky.cz/ )
Definition (MEDLINEPLUS)

Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism. 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

Definition (NCI) 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.
Definition (CSP) 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.
Definition (MSH) 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)
Concepts Disease or Syndrome (T047)
MSH D015518
ICD10 F84.2
SnomedCT 68618008, 192583003
DSM4 299.80
English Rett's Syndrome, Retts Syndrome, Syndrome, Rett, Syndrome, Rett's, Rett's Disorder, Rett's syndrome, RETT SYNDROME, RTT, RTS, AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE, Rett Syndrome, RETTS DIS, RETT DIS, cerebroatrophic hyperammonemia, Rett's syndrome (diagnosis), Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome, Cerebroatrophic Hyperammonemia, Hyperammonemia, Cerebroatrophic, Cerebroatrophic Hyperammonemias, Hyperammonemias, Cerebroatrophic, Rett Disorder, Rett disorder, Rett Syndrome [Disease/Finding], rett disorder, rett's syndrome, rett syndrome, rett's disorder, disorder retts, retts syndrome, syndrome rett, Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome, Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use, Retts syndrome, Rett syndrome (disorder), Rett syndrome, Cerebroatrophic hyperammonaemia, Cerebroatrophic hyperammonemia, Rett's disorder, RTS - Rett syndrome, Rett's disorder (disorder), Rett
Japanese レット障害, レットショウガイ, Rett症候群, レット症候群
Swedish Retts syndrom
Czech Rettův syndrom, Rettova choroba
Finnish Rettin oireyhtymä
Italian Disturbo di Rett, Iperammoniemia cerebroartrofica, RTT, SR, Sindrome da autismo, demenza, atassia e perdita dell'uso finalistico della mano, Sindrome di Rett
Korean 레트 증후군
Portuguese Síndrome de Autismo-Demência-Ataxia-Perda do Uso Proposital da Mão, Síndrome de Autismo-Demência-Ataxia-Perda do Uso Intencional da Mão, Hiperamonemia Cerebroatrófica, Síndrome de Rett
Polish Zespół Retta
Hungarian Rett-betegség
Norwegian Retts syndrom
Spanish hiperamonemia cerebroatrófica, síndrome de Rett, trastorno de Rett (trastorno), trastorno de Rett, Trastorno de Rett, Autismo, Demencia, Ataxia y Pérdida Intencionada del Uso de la Mano, Hiperamonemia Cerebroatrófica, Síndrome de Rett
Dutch ziekte van Rett, Autisme-dementie-ataxie-verminderde handfunctie, Hyperammonemie, cerebroatrofische i, Syndroom van Rett
German Rett Syndrom, Rett-Syndrom, Hirnatrophische Hyperammonämie, Syndrom mit Autismus, Demenz, Alexie und Verlust von zweckmäßigen Handbewegungen
French Syndrome de Rett