Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Proximal symphalangism

Orpha number ORPHA3250
Synonym(s) Symphalangism, Cushing type
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q70.9
ICD-O -
OMIM
UMLS
  • C1861385
MeSH
  • C536223
MedDRA -
SNOMED CT -

Summary

Proximal symphalangism or Cushing's symphalangism is characterised by fusion of the proximal interphalangeal joints. Other joints may also be affected, leading to ankylosis of the elbows, ankles and wrists (fusion of the carpal and tarsal bones). Conductive deafness due to fusion of the ossicles is also a characteristic feature. The condition is transmitted as an autosomal dominant trait and the causative gene has been identified as NOG and localised to chromosome 17q22.


(*) 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
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.