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Disease De Lange Syndrome

Name De Lange Syndrome
Synonyms Amstelodamensis, Typus Degenerativus | BDLS | Brachmann De Lange Syndrome | Brachmann-De Lange Syndrome | CDL | CDLS | CDLS1 | CdLS2 | CDLS3 | CdLS, X-Linked | Cornelia De Lange Syndrome | Cornelia de Lange Syndrome 1 | Cornelia de Lange Syndrome 2 | Cornelia de Lange Syndrome 3 | Cornelia de Lange Syndrome, X Linked | Cornelia de Lange Syndrome, X-Linked | De Lange's Syndrome | DE LANGE SYNDROME | Syndrome, Brachmann-De Lange | Syndrome, De Lange | Syndrome, De Lange's | Typus Degenerativus Amstelodamensis
Definition 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)
Categories Congenital abnormality | Genetic disease (inborn) | Nervous system disease
MeSH® ID D003635
OMIM® IDs 122470 | 300590 | 610759
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated exposure references De Lange Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes De Lange Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes De Lange Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes De Lange Syndrome Has associated chemicals Has associated genes

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De Lange Syndrome Has associated chemicals Has associated genes
  Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay