x

Search for a rare disease

* (*) mandatory field

Other search option(s)

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.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Multinodular goiter-cystic kidney-polydactyly syndrome

Disease definition

Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.

ORPHA:2091

Classification level: Disorder
  • Synonym(s):
    • Daneman-Davy-Mancer syndrome
    • Thyroid-renal-digital anomalies
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 138790
  • UMLS: C1841853
  • MeSH: -
  • GARD: 1671
  • MedDRA: -

Summary

Epidemiology

It has been described in two sibs and one unrelated child.

Clinical description

The two sibs had digitalized thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goiter and/or digitalized thumbs and/or polydactyly were present in other members of families.

Genetic counseling

This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance.

- Last update: October 2010

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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.