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

Simple search

(*) mandatory field


Other search option(s)

Cleft palate - short stature - vertebral anomalies

Orpha number ORPHA2015
Synonym(s) Mathieu-De Broca-Bony syndrome
Prevalence <1 / 1 000 000
  • Autosomal dominant
Age of onset Neonatal/infancy
  • Q87.0
MeSH -
MedDRA -


This syndrome is characterised by the combination of mild intellectual deficit with peculiar facies, cleft palate, short stature, short neck and vertebral anomalies. It has been described in a male adult and his son. The peculiar facies was marked by a mildly asymmetrical appearance, with inner epicanthal folds, a short nose, anteverted nostrils, low and back-oriented ears, a thin upper lip, and micrognathism. Fingers and hands were short with horizontal palmar crease. Both patients had a cervical vertebral block. Although only one family has been described with this syndrome, the mode of inheritance is likely to be autosomal dominant.

(*) 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.