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WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/09/22 08:44:32」(JST)
[Wiki en表示]
| Antley–Bixler syndrome |
| Classification and external resources |
| Specialty |
medical genetics |
| ICD-10 |
Q87.0 |
| OMIM |
207410 201750 |
| DiseasesDB |
32831 |
| MeSH |
D054882 |
|
[edit on Wikidata]
|
Antley–Bixler syndrome, also called trapezoidocephaly-synostosis syndrome,[1] is a rare, very severe autosomal recessive[2] congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.
Contents
- 1 Presentation
- 2 Pathophysiology
- 3 Eponym
- 4 See also
- 5 External links
- 6 References
Presentation
Antley–Bixler syndrome presents itself at birth or prenatally.[2] Features of the disorder include brachycephaly (flat forehead), craniosynostosis (complete skull-joint closure) of both coronal and lambdoid sutures, facial hypoplasia (underdevelopment); bowed ulna (forearm bone) and femur (thigh bone), synostosis of the radius (forearm bone), humerus (upper arm bone), and trapezoid (hand bone); camptodactyly (fused interphalangeal joints in the fingers), thin ilial wings (outer pelvic plate), and renal malformations.[2]
Other symptoms, such as cardiac malformations, proptotic exophthalmos (bulging eyes), arachnodactyly (spider-like fingers), as well as nasal, anal, and vaginal atresia (occlusion) have been reported.[2][3][4]
Pathophysiology
Antley–Bixler syndrome has an autosomal recessive pattern of inheritance.
There are two distinct genetic mutations associated with the Antley–Bixler syndrome phenotype, which suggests the disorder may be genetically heterogeneous.[5]
| OMIM |
Gene |
Description |
| 207410 |
FGFR2 |
Mutations found in the FGFR2 gene have been shown to cause synostosis and other formal skeletal, poly and syndactylic abnormalities found in Antley–Bixler and similar disorders.[6] |
| 201750 |
POR |
A missense mutation in the Cytochrome P450 reductase (POR) gene results in abnormal steroidogenesis related to the genital malformations often found in Antley-Bixler.[5][6] In OMIM, this is classified as an "Antley–Bixler syndrome-like phenotype" and not as Antley–Bixler syndrome itself. |
Antley–Bixler syndrome is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene (one inherited from each parent) are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene but are usually not affected by the disorder.
Eponym
Antley–Bixler syndrome is named after Drs. Ray M. Antley (b. 1936) and David Bixler (b. 1940),[7] who first described the disorder in a journal report from 1975.[8]
See also
- Crouzon syndrome
- Jackson–Weiss syndrome
- Pfeiffer syndrome
External links
- GeneReviews/NIH/NCBI/UW entry on FGFR-Related Craniosynostosis Syndromes
- GeneReviews/NCBI/NIH/UW entry on Cytochrome P450 Oxidoreductase Deficiency
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 207410
- ^ a b c d Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C (1983). "Antley–Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus". American Journal of Medical Genetics. 14 (1): 139–147. doi:10.1002/ajmg.1320140119. PMID 6829602.
- ^ LeHeup BP, Masutti JP, Droulle P, Tisserand J (1995). "The Antley–Bixler syndrome: report of two familial cases with severe rectal and anal anomalies". Eur J Pediatr. 154 (2): 130–131. doi:10.1007/BF01991916. PMID 7720741.
- ^ Holsalkar HS, Shah HS, Gujar PS, Shaw BA (2001). "The Antley–Bixler syndrome: two new cases". J Postgrad Med. 47 (4): 252–255. PMID 11832641.
- ^ a b Adachi M, Tachibana K, Asakura Y, Yamamoto T, Hanaki K, Oka A (2004). "Compound heterozygous mutations of cytochrome p450 oxidoreductase gene (POR) in two patients with Antley–Bixler syndrome". American Journal of Medical Genetics. 128 (4): 333–339. doi:10.1002/ajmg.a.30169. PMID 15264278.
- ^ a b Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Fluck CE, Miller WL (2005). "Diversity and function of mutations in p450 oxidoreductase in patients with Antley–Bixler syndrome and disordered steroidogenesis". Hum Genet. 76 (5): 729–749. doi:10.1086/429417. PMC 1199364. PMID 15793702.
- ^ synd/226 at Who Named It?
- ^ Antley R, Bixler D (1975). "Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures". Birth Defects Orig. Artic. Ser. 11 (2): 397–401. PMID 1227559.
|
Osteochondrodysplasia (Q77–Q78, 756.4–756.5)
|
|
Osteodysplasia//
osteodystrophy |
| Diaphysis |
- Camurati–Engelmann disease
|
|
| Metaphysis |
- Metaphyseal dysplasia
- Jansen's metaphyseal chondrodysplasia
- Schmid metaphyseal chondrodysplasia
|
|
| Epiphysis |
- Spondyloepiphyseal dysplasia congenita
- Multiple epiphyseal dysplasia
- Otospondylomegaepiphyseal dysplasia
|
|
| Osteosclerosis |
- Raine syndrome
- Osteopoikilosis
- Osteopetrosis
|
|
| Other/ungrouped |
- FLNB
- Opsismodysplasia
- Polyostotic fibrous dysplasia
|
|
|
Chondrodysplasia/
chondrodystrophy
(including dwarfism) |
| Osteochondroma |
- osteochondromatosis
- Hereditary multiple exostoses
|
|
| Chondroma/enchondroma |
- enchondromatosis
- Ollier disease
- Maffucci syndrome
|
|
| Growth factor receptor |
| FGFR2: |
|
|
| FGFR3: |
- Achondroplasia
- Thanatophoric dysplasia
|
|
|
| COL2A1 collagen disease |
- Achondrogenesis
- Hypochondrogenesis
|
|
| SLC26A2 sulfation defect |
- Achondrogenesis
- Autosomal recessive multiple epiphyseal dysplasia
- Atelosteogenesis, type II
- Diastrophic dysplasia
|
|
| Chondrodysplasia punctata |
- Rhizomelic chondrodysplasia punctata
- Conradi–Hünermann syndrome
|
|
| Other dwarfism |
- Fibrochondrogenesis
- Short rib – polydactyly syndrome
- Majewski's polydactyly syndrome
- Léri–Weill dyschondrosteosis
|
|
|
Cell surface receptor deficiencies
|
|
G protein-coupled receptor
(including hormone) |
| Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty)
- FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis)
- GnRHR (Gonadotropin-releasing hormone insensitivity)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
|
|
| Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
|
|
| Class C |
- CASR (Familial hypocalciuric hypercalcemia)
|
|
| Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
|
|
|
Enzyme-linked receptor
(including
growth factor) |
| RTK |
- ROR2 (Robinow syndrome)
- FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
- FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
- FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
- INSR (Donohue syndrome
- Rabson–Mendenhall syndrome)
- NTRK1 (Congenital insensitivity to pain with anhidrosis)
- KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
|
|
| STPK |
- AMHR2 (Persistent Müllerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
- TGFBR1/TGFBR2 (Loeys–Dietz syndrome)
|
|
| GC |
- GUCY2D (Leber's congenital amaurosis 1)
|
|
|
| JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
|
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| TNF receptor |
- TNFRSF1A (TNF receptor associated periodic syndrome)
- TNFRSF13B (Selective immunoglobulin A deficiency 2)
- TNFRSF5 (Hyper-IgM syndrome type 3)
- TNFRSF13C (CVID4)
- TNFRSF13B (CVID2)
- TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
|
|
| Lipid receptor |
- LRP: LRP2 (Donnai–Barrow syndrome)
- LRP4 (Cenani–Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
|
|
| Other/ungrouped |
- Immunoglobulin superfamily: AGM3, 6
- Integrin: LAD1
- Glanzmann's thrombasthenia
- Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR hypohidrotic ectodermal dysplasia)
- PTCH1 (Nevoid basal-cell carcinoma syndrome)
- BMPR1A (BMPR1A juvenile polyposis syndrome)
- IL2RG (X-linked severe combined immunodeficiency)
- See also
- cell surface receptors
|
|
Inborn error of steroid metabolism
|
|
| Mevalonate pathway |
- Hyper-IgD syndrome
- Mevalonate kinase deficiency
|
|
| To cholesterol |
- 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
- CHILD syndrome
- Conradi-Hünermann syndrome
- Lathosterolosis
- Smith-Lemli-Opitz syndrome
- desmosterol path: Desmosterolosis
|
|
| Steroids |
Corticosteroid
(including CAH) |
- aldosterone: Glucocorticoid remediable aldosteronism
- cortisol/cortisone: CAH 17α hydroxylase
- CAH 11β hydroxylase
- both: CAH 3β dehydrogenase
- CAH 21α hydroxylase
- Apparent mineralocorticoid excess syndrome/11β dehydrogenase
|
|
| Sex steroid |
| To androgens |
- 17-beta-hydroxysteroid dehydrogenase deficiency
- 5-alpha-reductase deficiency
- Pseudovaginal perineoscrotal hypospadias
|
|
| To estrogens |
- Aromatase deficiency
- Aromatase excess syndrome
|
|
|
| Other |
- X-linked ichthyosis
- Antley-Bixler syndrome
|
|
UpToDate Contents
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English Journal
- Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
- Rossi M1, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC.
- Pediatric radiology.Pediatr Radiol.2015 Jul;45(7):965-76. doi: 10.1007/s00247-014-3257-9. Epub 2015 Feb 3.
- Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, name
- PMID 25646736
- Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects.
- Fukami M1, Ogata T.
- Pediatrics international : official journal of the Japan Pediatric Society.Pediatr Int.2014 Dec;56(6):805-8. doi: 10.1111/ped.12518.
- Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a newly characterized disorder. PORD is caused by homozygous or compound heterozygous mutations in POR encoding an electron donor for several microsomal enzymes such as CYP21A2, CYP17A1, CYP19A1, CYP51A1, and CYP26A1-C1. Molecular defects of
- PMID 25294558
- Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
- Nur BG1, Pehlivanoğlu S2, Mıhçı E1, Calışkan M2, Demir D2, Alper OM3, Kayserili H4, Lüleci G2.
- Pediatric neurology.Pediatr Neurol.2014 May;50(5):482-90. doi: 10.1016/j.pediatrneurol.2014.01.023. Epub 2014 Jan 11.
- BACKGROUND: Fibroblast growth factor receptor 2 mutations have been associated with the craniosynostotic conditions of Apert, Crouzon, Pfeiffer, Saethre-Chotzen, Jackson-Weiss, Beare-Stevenson cutis gyrata, and Antley-Bixler syndromes in various ethnic groups.METHODS: Thirty-three unrelated Turkish
- PMID 24656465
Japanese Journal
- ヘリカルCTによる骨三次元像により出生前診断したAntley-Bixler症候群の一例 (特集 胎児の異常とその診断,その後に)
- マススクリーニングでの17αOHP高値をきっかけに診断されたPOR遺伝子異常による Antley-Bixler 症候群の1女児例
- 日本マス・スクリーニング学会誌 = Journal of Japanese Society for Mass-screening 15(2), 75, 2005-09-27
- NAID 10020472131
- Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis
Related Links
- Antley-Bixler Syndrome is typically characterized by distinctive malformations of the head and facial (craniofacial) area. In most affected infants, there is premature closure of the fibrous joints (sutures) between bones of ...
- The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including ...
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