Rett Syndrome
Synonyms
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
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)
See Also