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

Simple search

*
(*) mandatory field





 

Other search option(s)

Aurocephalosyndactyly

Orpha number ORPHA1219
Synonym(s) Auralcephalosyndactyly
Kurczynski-Casperson syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
OMIM
UMLS
  • C1510455
MeSH
  • D000168
MedDRA
  • 10000590
SNOMED CT
  • 268262006

Summary

Aurocephalosyndactyly, a syndrome including craniosynostosis associated to other malformations was described in one single family with 5 affected individuals (3 males and 2 females) over 2 generations. Associated with the craniosynostosis were characteristic ears, a short columella (basis of the nasal wall separating nostrils), and symmetric syndactyly of toes 4 and 5. Two of the brothers had craniectomies and developed mild mental retardation and hearing loss. The third affected brother died of congenital heart disease in infancy. The syndrome is likely to be inherited 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
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.