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Cornelia de Lange syndrome

Disease definition

A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present.

ORPHA:199

Classification level: Disorder
  • Synonym(s):
    • Brachmann-de Lange syndrome
  • Prevalence: -
  • Inheritance: Autosomal dominant or X-linked recessive or Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.1
  • OMIM: 122470  300590  300882  610759  614701
  • UMLS: C0270972
  • MeSH: D003635
  • GARD: 10109
  • MedDRA: 10056354

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.