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skos:definition |
MSH: Congenital malformation characterized by micrognathia, glossoptosis and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.,NCI: A rare congenital malformation characterized by micrognathia, posterior retraction of the tongue, and cleft palate.
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