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Descriptor English: Rett Syndrome
Descriptor Spanish: Síndrome de Rett
Descriptor síndrome de Rett
Entry term(s) autismo, demencia, ataxia y pérdida intencionada del empleo de la mano
hiperamoniemia cerebroatrófica
Scope note: Trastorno hereditario que se asocia con una transmisión vinculada al cromosoma X y que puede ser letal en el útero en machos hemicigóticos. Clínicamente, el nacimiento y desarrollo en las hembras afectadas suele ser normal hasta los 6-25 meses, cuando aparece pérdida progresiva del control voluntario del movimiento de las manos y de las capacidades de comunicación, ataxia, movimientos estereotipados de la mano, convulsiones, comportamiento autista, hiperventilación, e hiperamoniemia. (Menkes, Textbook of Child Neurology, 5th ed, p199)
Descriptor Portuguese: Síndrome de Rett
Descriptor French: Syndrome de Rett
Entry term(s): Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia
Cerebroatrophic Hyperammonemias
Hyperammonemia, Cerebroatrophic
Hyperammonemias, Cerebroatrophic
Rett Disorder
Rett's Disorder
Rett's Syndrome
Retts Syndrome
Syndrome, Rett
Syndrome, Rett's
Tree number(s): C10.597.606.360.455.937
C16.320.322.500.937
C16.320.400.525.937
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D015518
Scope note: 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)
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Mental Retardation (1983-1989)
Movement Disorders (1986-1989)
Public MeSH Note: 90
History Note: 90
Related: Intellectual Disability MeSH
DeCS ID: 24868
Unique ID: D015518
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1990/01/01
Date of Entry: 1989/04/07
Revision Date: 2018/06/30
Rett Syndrome - Preferred
Concept UI M0023877
Scope note 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)
Preferred term Rett Syndrome
Entry term(s) Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia
Cerebroatrophic Hyperammonemias
Hyperammonemia, Cerebroatrophic
Hyperammonemias, Cerebroatrophic
Rett Disorder
Rett's Disorder
Rett's Syndrome
Retts Syndrome
Syndrome, Rett
Syndrome, Rett's



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