Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Nervous System Diseases
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Término preferido
De Lange Syndrome
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Tipo
-
mesh:Descriptor
Definición
- 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)
Concepto genérico
Etiquetas alternativas
- Brachmann-De Lange Syndrome
- Cornelia De Lange Syndrome
- De Lange's Syndrome
- Typus Degenerativus Amstelodamensis
En otras lenguas
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francés
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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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