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Antley-Bixler Syndrome Phenotype

MedGen UID:
389937
•Concept ID:
C2350233
•
Disease or Syndrome
Synonyms: Antley Bixler Syndrome Phenotype; Phenotype, Antley-Bixler Syndrome

Definition

An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2). [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAntley-Bixler Syndrome Phenotype

Professional guidelines

PubMed

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.
Wang C, Tian Q
Front Endocrinol (Lausanne) 2023;14:1226387. Epub 2023 Aug 11 doi: 10.3389/fendo.2023.1226387. PMID: 37635957Free PMC Article
P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships.
Dean B, Chrisp GL, Quartararo M, Maguire AM, Hameed S, King BR, Munns CF, Torpy DJ, Falhammar H, Rushworth RL
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz255. PMID: 31825489
Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.
Fan L, Ren X, Song Y, Su C, Fu J, Gong C
Orphanet J Rare Dis 2019 Dec 30;14(1):299. doi: 10.1186/s13023-019-1283-2. PMID: 31888681Free PMC Article

Recent clinical studies

Therapy

Anesthetic risks associated with Antley-Bixler syndrome.
Gençay I, Vargel I, Büyükkoçak U, Yazc I, Apan A
J Craniofac Surg 2013 Jan;24(1):e21-3. doi: 10.1097/SCS.0b013e318267be0f. PMID: 23348324
Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.
Horvat S, McWhir J, Rozman D
Drug Metab Rev 2011 Feb;43(1):69-90. doi: 10.3109/03602532.2010.540580. PMID: 21247357

Prognosis

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.
Wang C, Tian Q
Front Endocrinol (Lausanne) 2023;14:1226387. Epub 2023 Aug 11 doi: 10.3389/fendo.2023.1226387. PMID: 37635957Free PMC Article
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.
Oldani E, Garel C, Bucourt M, Carbillon L
Am J Case Rep 2015 Dec 16;16:882-5. doi: 10.12659/ajcr.895526. PMID: 26670660Free PMC Article
Antley-Bixler syndrome: surgical management of ambiguous genitalia - a case report.
Boia ES, Popoiu MC, Puiu M, Stanciulescu CM, David VL
Med Princ Pract 2014;23(4):384-6. Epub 2013 Dec 10 doi: 10.1159/000356857. PMID: 24334858Free PMC Article
P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.
Miller WL
Sci Signal 2012 Oct 23;5(247):pt11. doi: 10.1126/scisignal.2003318. PMID: 23092891
Foot anomalies in Antley-Bixler syndrome: three case reports.
Nakamura N, Adachi M, Machida J, Okuzumi S
J Pediatr Orthop B 2008 Sep;17(5):241-5. doi: 10.1097/BPB.0b013e32830cc35c. PMID: 19471176

Clinical prediction guides

In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.
Nurhafizuddin M, Azizi A, Ming LC, Shafqat N
Molecules 2022 Jul 21;27(14) doi: 10.3390/molecules27144646. PMID: 35889519Free PMC Article
A spectrum of recessiveness among Mendelian disease variants in UK Biobank.
Barton AR, Hujoel MLA, Mukamel RE, Sherman MA, Loh PR
Am J Hum Genet 2022 Jul 7;109(7):1298-1307. Epub 2022 May 31 doi: 10.1016/j.ajhg.2022.05.008. PMID: 35649421Free PMC Article
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype.
McCammon KM, Panda SP, Xia C, Kim JJ, Moutinho D, Kranendonk M, Auchus RJ, Lafer EM, Ghosh D, Martasek P, Kar R, Masters BS, Roman LJ
J Biol Chem 2016 Sep 23;291(39):20487-502. Epub 2016 Aug 5 doi: 10.1074/jbc.M116.716019. PMID: 27496950Free PMC Article
P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.
Miller WL
Sci Signal 2012 Oct 23;5(247):pt11. doi: 10.1126/scisignal.2003318. PMID: 23092891
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype.
Shackleton C, Marcos J, Arlt W, Hauffa BP
Am J Med Genet A 2004 Aug 30;129A(2):105-12. doi: 10.1002/ajmg.a.30171. PMID: 15316970

Recent systematic reviews

P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships.
Dean B, Chrisp GL, Quartararo M, Maguire AM, Hameed S, King BR, Munns CF, Torpy DJ, Falhammar H, Rushworth RL
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz255. PMID: 31825489

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