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Trichorhinophalangeal syndrome type 2

Disease definition

A rare multiple congenital anomalies syndrome characterized by the association of intellectual disability and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped phalangeal epiphyses.

ORPHA:502

Classification level: Disorder
  • Synonym(s):
    • Deletion 8q24.1
    • Langer-Giedion syndrome
    • Monosomy 8q24.1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: Q87.8
  • OMIM: 150230
  • UMLS: C0023003  C2931237
  • MeSH: C536555  D015826
  • GARD: 7801
  • MedDRA: 10050638

Detailed information

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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.