x

Search for a rare disease

* (*) mandatory field
Suggest an update

(*) 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

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Disease definition

This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa (see this term). It has been described in two sisters born to nonconsanguineous parents.

ORPHA:2235

  • Synonym(s):
    • Chang-Davidson-Carlson syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: No data available
  • ICD-10: -
  • OMIM: -
  • UMLS: C2931722
  • MeSH: -
  • GARD: 1234
  • MedDRA: -

Detailed information

Professionals

Additional information

Specialised Social Services

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.