Cleft palate-short stature-vertebral anomalies syndrome

Orpha code: 2015OMIM code:

Definicja

A rare, genetic, multiple congenital anomalies syndrome 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. There have been no further descriptions in the literature since 1993.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Mathieu-De Broca-Bony syndrome
Zespół Mathieu, De Broca i Bony
Kod ORPHA
2015
Kod OMIM
-
Kod ICD10
Q87.0
Kod ICD11
-

No additional description.

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