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Langer-Giedion syndrome

ORPHA502
Synonym(s) Deletion 8q24.1
Monosomy 8q24.1
Trichorhinophalangeal syndrome type 2
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
Childhood
ICD-10
  • Q87.8
OMIM
UMLS
  • C0023003
  • C2931237
MeSH
  • C536555
  • D015826
MedDRA
  • 10050638

Summary

Disease definition

Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

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