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71 Possible Causes for Buccal Frenulae, Caused by Mutation in the Transcription Factor-12 Gene

  • Isolated Brachycephaly

    frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] […] trigonocephaly, unusual facies (up-slanting palpebral fissures, epicanthal folds, strabismus, hypoplastic nasal root), wide alveolar ridges, deep midline palatal furrow, multiple buccal[rrnursingschool.biz]

  • Pallister-Hall Syndrome

    frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com] Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula[ncbi.nlm.nih.gov] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • Ondine Syndrome

    […] by a mutation in the PHOX2B gene located on chromosome band 4 p 12 (1, 3 and 4).[sajch.org.za] This gene encodes a 314-amino acid transcription factor that is expressed in the developing hindbrain and peripheral nervous system, as well as in all non-adrenergic centres[sajch.org.za] , 5 PHOX2B encodes for a transcription factor known to play a key role in the development of autonomic nervous system (ANS) reflex circuits in mice. 3 CCHS is most often caused[sajch.org.za]

    Missing: Buccal Frenulae
  • Haddad Syndrome

    […] by a mutation in the PHOX2B gene located on chromosome band 4 p 12 (1, 3 and 4).[sajch.org.za] This gene encodes a 314-amino acid transcription factor that is expressed in the developing hindbrain and peripheral nervous system, as well as in all non-adrenergic centres[sajch.org.za] , 5 PHOX2B encodes for a transcription factor known to play a key role in the development of autonomic nervous system (ANS) reflex circuits in mice. 3 CCHS is most often caused[sajch.org.za]

    Missing: Buccal Frenulae
  • Atrial Septal Defect

    Mutations in NKX2.5 , a gene coding for cardiac transcription located on chromosome 5, cause a familial form of ostium secundum ASD. 1% to 4% of ASDs are associated with mutations[clinicaladvisor.com] Subsequently, it was found that at least 75% of patients with Holt-Oram syndrome have abnormalites in TBX5, which is a transcription factor located on chromosome 12.[clinicaladvisor.com]

    Missing: Buccal Frenulae
  • Autosomal Dominant Prognathism

    frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[en.wikibooks.org] Waardenburg syndrome, type IIA 193510 AD wide nasal bridge, short philtrum, cleft lip or palate, deafness Pallister-Hall syndrome 146510 AD short nose, flat nasal bridge, multiple buccal[en.wikibooks.org]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • Isolated Trigonocephaly

    It was first reported by Opitz, et al. in 1969 and is characterized by trigonocephaly (prominent metopic sutures), multiple buccal frenula, polydactyly, skin laxity, primordial[indianpediatrics.net] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] […] trigonocephaly, unusual facies (up-slanting palpebral fissures, epicanthal folds, strabismus, hypoplastic nasal root), wide alveolar ridges, deep midline palatal furrow, multiple buccal[rrnursingschool.biz]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • Ostium Primum Atrial Septal Defect

    Mutations in NKX2.5, a gene coding for cardiac transcription located on chromosome 5, cause a familial form of ostium secundum ASD. 1% to 4% of ASDs are associated with mutations[clinicaladvisor.com] Subsequently, it was found that at least 75% of patients with Holt-Oram syndrome have abnormalites in TBX5, which is a transcription factor located on chromosome 12.[clinicaladvisor.com]

    Missing: Buccal Frenulae
  • Atrial Septal Defect 9

    Mutations in NKX2.5, a gene coding for cardiac transcription located on chromosome 5, cause a familial form of ostium secundum ASD. 1% to 4% of ASDs are associated with mutations[clinicaladvisor.com] Subsequently, it was found that at least 75% of patients with Holt-Oram syndrome have abnormalites in TBX5, which is a transcription factor located on chromosome 12.[clinicaladvisor.com]

    Missing: Buccal Frenulae
  • Ptosis

    Etiology In 85% of cases, BPES is caused by an intragenic mutation (80%), gene deletion (10-12%), deletion of regulatory elements outside of the FOXL2 gene (3q23)( FOXL2 locus[orpha.net] FOXL2 encodes a forkhead transcription factor that contains a typical DNA-binding forkhead domain and a polyalanine tract of 14 residues strictly conserved in mammals.[orpha.net]

    Missing: Buccal Frenulae

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