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

Simple search

*
(*) mandatory field





 

Other search option(s)

Synspondylism

Orpha number ORPHA3275
Synonym(s) Spondylocarpotarsal synostosis
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q76.4
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Spondylocarpotarsal synostosis syndrome or congenital synspondylism is a rare disorder characterised by vertebral fusions, frequently manifesting as an unsegmented vertebral bar, as well as fusions of the carpal and tarsal bones. Linkage analysis localised the disease gene to chromosome 3p14 and encoding filamin B. Transmission is autosomal recessive. However, genetic heterogeneity seems to exist as some families with autosomal dominant transmission and no filamine B mutation have been described. They are being investigated.

Expert reviewer(s)

  • Dr Martine LE MERRER
Last update: August 2006

(*) 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

Detailed information
Clinical genetics review
  • EN (2008)
Get Acrobat Reader
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.