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

Simple search

*
(*) mandatory field





 

Other search option(s)

Stern-Lubinsky-Durrie syndrome

Orpha number ORPHA3194
Synonym(s) Corneo-dermato-osseous syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10 -
OMIM
UMLS
  • C1852542
  • C2931506
MeSH
  • C536444
  • C537488
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.


(*) 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

Review article
  • EN (2009)
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.