x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Langer-Giedion syndrome

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.

ORPHA:502

  • 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: 150230
  • UMLS: C0023003  C2931237
  • MeSH: C536555  D015826
  • GARD: 7801
  • MedDRA: 10050638

Detailed information

Article for general public

Professionals

Additional information

Specialised Social Services

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.