Antley–Bixler syndrome
| Antley–Bixler syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q87.0 |
| OMIM | 207410 201750 |
| DiseasesDB | 32831 |
| MeSH | D054882 |
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.
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
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
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
- 1 2 3 4 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.
- 1 2 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.
- 1 2 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.