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. Author manuscript; available in PMC: 2017 Mar 1.
Published in final edited form as: Semin Cell Dev Biol. 2016 Jan 15;51:54–63. doi: 10.1016/j.semcdb.2016.01.016

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