Number of the records: 1
Pierre Robinov syndróm
Record number d010855 Date 06.06.2025 Type M Topical term Pierre Robinov syndróm Other term Slovak (Pseudonym) Pierre Robinova sekvencia
Slovak (Pseudonym) micrognatia-glossoptosis congenitalis
Slovak (Pseudonym) Robinova sekvencia
Slovak (Pseudonym) Robinov syndróm
Slovak (Pseudonym) glosoptóza, mikrognatia a rázštep podnebia
See also (Skutočné meno) Andersenov syndróm
(Skutočné meno) dysplázia kampomelická
(Skutočné meno) faktor transkripčný SOX9
(Later heading) Andersenov syndróm
(Later heading) dysplázia kampomelická
(Later heading) faktor transkripčný SOX9
UDC C05.500.460.606C05.660.207.540.460.606C07.320.440.606C07.650.500.460.606C16.131.621.207.540.460.606C16.131.850.500.460.606 Note Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; 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. 
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Number of the records: 1