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

Simple search

*
(*) mandatory field





 

Other search option(s)

Cutis gyrata - acanthosis nigricans - craniosynostosis

Orpha number ORPHA1555
Synonym(s) Beare-Stevenson cutis gyrata syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability.


(*) 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 (2011)
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.