Table 1.
A sample of syndromes that can present with A) persistent buccopharyngeal membrane and B) choanal atresia and C) median clefts.
| A. SYNDROMES THAT CAN PRESENT WITH PERSISTENT BUCCOPHARYNGEAL MEMBRANE | AFFECTED GENE | OMIM |
|---|---|---|
| HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS | UNKNOWN | 241310 |
| MICROPHTHALMIA, SYNDROMIC 5 | OTX2 | 610125 |
| AGNATHIA-OTOCEPHALY COMPLEX | PRRX1 | 202650 |
| HOLZGREVE SYNDROME | UNKNOWN | 236110 |
| B. SYNDROMES THAT CAN PRESENT WITH CHOANAL ATRESIA | AFFECTED GENE | OMIM |
| CHARGE | CHD7, SEMA3E | 214800 |
| CROUZON | FGFR2 | 123500 |
| APERT | FGFR2 | 101200 |
| PFEIFFER | FGFR1, FGFR2 | 101600 |
| ANTLEY-BIXLER | FGFR2 | 207410 |
| CHOANAL ATRESIA AND LYMPHEDEMA | PTPN14 | 613611 |
| BURN-MCKEOWN SYNDROME | TXNL4A | 608572 |
| C. SYNDROMES THAT CAN PRESENT WITH MEDIAN CLEFTS | AFFECTED GENE | OMIM |
| FRONTONASAL DYSPLASIA | ALX3 | 136760 |
| BINDER | UNKNOWN | 155050 |
| ANTLEY-BIXLER | FGFR2 | 207410 |
| CROUZON | FGFR2 | 123500 |
| PAI | UNKNOWN | 155145 |
| ORO-FACIAL-DIGITAL 1/THURSTON | OFD-1 | 174300 |
| ORO-FACIAL-DIGITAL 5 | DDX59 | 174300 |
| OPITZ/GBBB | MID1 | 300000 |
| ARTHROGRYPOSIS DA2/GORDON | PIEZO2 | 114300 |