U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Etiology

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
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
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
Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome.
Keber R, Motaln H, Wagner KD, Debeljak N, Rassoulzadegan M, Ačimovič J, Rozman D, Horvat S
J Biol Chem 2011 Aug 19;286(33):29086-29097. Epub 2011 Jun 25 doi: 10.1074/jbc.M111.253245. PMID: 21705796Free PMC Article
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

Diagnosis

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
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.
Morton JE, Frentz S, Morgan T, Sutherland-Smith AJ, Robertson SP
Am J Med Genet A 2016 Oct;170(10):2706-10. Epub 2016 Jul 13 doi: 10.1002/ajmg.a.37804. PMID: 27410456
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
Clinical and biochemical consequences of p450 oxidoreductase deficiency.
Flück CE, Pandey AV
Endocr Dev 2011;20:63-79. Epub 2010 Dec 16 doi: 10.1159/000321221. PMID: 21164260
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

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
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
Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system.
Moutinho D, Marohnic CC, Panda SP, Rueff J, Masters BS, Kranendonk M
Drug Metab Dispos 2012 Apr;40(4):754-60. Epub 2012 Jan 17 doi: 10.1124/dmd.111.042820. PMID: 22252407Free PMC Article
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

Clinical prediction guides

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.
Guaragna-Filho G, Castro CC, Carvalho RR, Coeli FB, Ferraz LF, Petroli RJ, Mello MP, Sewaybricker LE, Lemos-Marini SH, D'Souza-Li LF, Miranda ML, Maciel-Guerra AT, Guerra-Junior G
Arq Bras Endocrinol Metabol 2012 Nov;56(8):578-85. doi: 10.1590/s0004-27302012000800020. PMID: 23295302
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
Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system.
Moutinho D, Marohnic CC, Panda SP, Rueff J, Masters BS, Kranendonk M
Drug Metab Dispos 2012 Apr;40(4):754-60. Epub 2012 Jan 17 doi: 10.1124/dmd.111.042820. PMID: 22252407Free PMC Article
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency.
Herkert JC, Blaauwwiekel EE, Hoek A, Veenstra-Knol HE, Kema IP, Arlt W, Kerstens MN
Neth J Med 2011 Jun;69(6):281-3. PMID: 21868813
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

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...