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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > De Lange Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > De Lange Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > De Lange Syndrome
Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > De Lange Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > De Lange Syndrome
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > De Lange Syndrome
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > De Lange Syndrome

Terme préférentiel

De Lange Syndrome  

Type

  • mesh:Descriptor

Définition

  • A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)

Concept générique

Synonyme(s)

  • Brachmann-De Lange Syndrome
  • Cornelia De Lange Syndrome
  • De Lange's Syndrome
  • Typus Degenerativus Amstelodamensis

Qualificatif(s) autorisé(s)

Traductions

  • Syndrome de Cornelia de Lange

    français

  • Maladie de Cornelia de Lange
  • Syndrome de Brachmann-De Lange
  • Typus amstelodamensis
  • Typus degenerativus amstelodamensis

URI

http://data.loterre.fr/ark:/67375/JVR-V63LBLK0-6

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 17/05/2019