De Lange Syndrome

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)

Also Known As:

Cornelia De Lange Syndrome; CdLS, X-Linked; CdLS2; Cornelia de Lange Syndrome 1; Cornelia de Lange Syndrome 2; Cornelia de Lange Syndrome 3; Cornelia de Lange Syndrome, X-Linked; De Lange's Syndrome; Typus Degenerativus Amstelodamensis; Amstelodamensis, Typus Degenerativus; Brachmann De Lange Syndrome; CdLS, X Linked; CdLSs, X-Linked; Cornelia de Lange Syndrome, X Linked; Syndrome, Brachmann-De Lange; X-Linked CdLS; X-Linked CdLSs; Brachmann-De Lange Syndrome

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - De Lange Syndrome: 186
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - De Lange Syndrome: 186
  - Chromosome Disorders: 136
    - De Lange Syndrome: 186
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - De Lange Syndrome: 186

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