Cleft palate short stature vertebral anomalies
Other Names: Mathieu-De Broca-Bony syndrome
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.
NIH genetic and rare disease info[edit source]
Cleft palate short stature vertebral anomalies is a rare disease.
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