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Antley-Bixler Syndrome Phenotype

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).
Also Known As:
Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency; Antley-Bixler Syndrome; Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis; Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase; Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency; Cytochrome P450 Oxidoreductase Deficiency; Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency; Multisynostotic Osteodysgenesis; Multisynostotic Osteodysgenesis With Long Bone Fractures; Osteodysgenesis, Multisynostotic, With Fractures; POR Deficiency; Trapezoidocephaly-Synostosis Syndrome; Antley Bixler Syndrome; Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis; Antley Bixler Syndrome Phenotype; Antley Bixler Syndrome Type 1; Antley Bixler Syndrome Type 2; Antley Bixler Syndrome with Disordered Steroidogenesis; Antley Bixler Syndrome, Autosomal Dominant; Antley Bixler Syndrome, Autosomal Recessive; Combined Partial Deficiency of 17 Hydroxylase and 21 Hydroxylase; Osteodysgenesis, Multisynostotic; Phenotype, Antley-Bixler Syndrome; Syndrome, Antley-Bixler; Syndrome, Trapezoidocephaly-Synostosis; Trapezoidocephaly Synostosis Syndrome; Trapezoidocephaly-Synostosis Syndromes; Antley-Bixler Syndrome Type 1; Antley-Bixler Syndrome Type 2; Antley-Bixler Syndrome with Disordered Steroidogenesis; Antley-Bixler Syndrome, Autosomal Dominant; Antley-Bixler Syndrome, Autosomal Recessive
Networked: 79 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1. Disorders of Sex Development (Intersexuality)
2. Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
3. Antley-Bixler Syndrome Phenotype
4. Virilism (Virilization)
5. Craniosynostoses (Craniosynostosis)

Experts

1. Pandey, Amit V: 10 articles (12/2019 - 03/2004)
2. Flück, Christa E: 10 articles (09/2017 - 03/2004)
3. Miller, Walter L: 10 articles (10/2012 - 03/2004)
4. Fukami, Maki: 9 articles (01/2018 - 01/2005)
5. Ogata, Tsutomu: 9 articles (01/2018 - 01/2005)
6. Hasegawa, Tomonobu: 7 articles (01/2018 - 01/2005)
7. Homma, Keiko: 7 articles (01/2018 - 01/2005)
8. Arlt, Wiebke: 7 articles (12/2010 - 03/2004)
9. Panda, Satya P: 6 articles (01/2016 - 11/2006)
10. Huang, Ningwu: 6 articles (12/2009 - 11/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Antley-Bixler Syndrome Phenotype:
1. Oxidoreductases (Dehydrogenase)IBA
2. Cytochrome P-450 Enzyme System (Cytochrome P450)IBA
3. 4,6-dinitro-o-cresol (DNOC)IBA
4. SteroidsIBA
5. EnzymesIBA
6. SterolsIBA
06/15/2002 - "Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia."
11/01/2005 - "Besides SLOS, GC-MS examination of amniotic fluid can detect various sterol deficits associated with malformations (lathosterolosis, desmosterolosis, X-linked chondrodysplasia, and particular Antley-Bixler syndrome). "
08/15/2004 - "Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome."
07/01/2015 - "Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. "
01/01/2013 - "In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith-Lemli-Opitz Syndrome (SLOS), mevalonic aciduria (MVA) or the milder version hyper-immunoglobulinemia D and periodic fever syndrome (HIDS), Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1), congenital hemidysplasia with icthyosiform nevus and limb defects (CHILD) syndrome, CK syndrome, sterol C4 methyl oxidase (SC4MOL) deficiency, X-linked dominant chondrodysplasia punctata 2(CDPX2)/ Conradi Hunermann syndrome, lathosterolosis and desmosterolosis, We also discuss current controversies and share thoughts on future directions in the field."
7. NADPH-Ferrihemoprotein Reductase (Cytochrome P450 Reductase)IBA
8. AndrogensIBA
9. Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA
10. GlucocorticoidsIBA

Therapies and Procedures

1. Sutures (Suture)
2. Anesthesia
3. Therapeutics
4. Osteotomy
5. Orthodontics