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

Simple search

*
(*) mandatory field





Other search option(s)

Mononen-Karnes-Senac syndrome

Orpha number ORPHA2565
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • X-linked dominant
Age of onset Neonatal/infancy
ICD 10 code -
MIM number
Synonym(s) Skeletal dysplasia - brachydactyly

Summary

This syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. *Author: Orphanet (June 2007)*.

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.
Languages :