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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 Infancy
Neonatal
ICD-10
  • Q87.0
ICD-O -
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.


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