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Cleft palate - short stature - vertebral anomalies

Orpha number ORPHA2015
Synonym(s) Mathieu-De Broca-Bony syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q87.0
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.


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