A number sign (#) is used with this entry because of evidence that Antley-Bixler syndrome with disordered steroidogenesis (ABS1) is caused by homozygous or. Antley–Bixler syndrome, also called trapezoidocephaly-synostosis syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by. This page from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Antley-Bixler syndrome and where to get help.
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Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. This gene regulates encodes the production of a protein known as a fibroblast growth vixler receptor FGFR. J Pediatr Orthop B. Poddevin F, et al.
The grossly dysmorphic embryonic lethal phenotype of POR knockout mice, with neural tube, cardiac, eye, and limb anomalies, suggests that severe disorders of POR may be sufficient to account for the skeletal findings in some individuals with an ABS phenotype Shen et al. Mutant P oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
They reported abnormalities of steroid biogenesis in 7 of 16 patients with an Antley-Bixler phenotype. The prognosis is poor with the majority of reported patients dying during infancy due to respiratory complications.
This article has been cited by. Achondrogenesis type 2 Hypochondrogenesis. The implications of these findings are unknown. Antley Bixler syndrome www. A diverse range of malformations cardiac, anal or vertebral are often associated. We are determined to keep this website freely accessible. Fifty percent of their children risk being carriers of the disease but generally will not show symptoms of the disorder.
Some individuals with Antley-Bixler Syndrome may have additional physical abnormalities. Related articles Abnormalities Multiple genetics radiography Case Report Contracture genetics radiography Craniosynostoses genetics radiography Human Infant Male Marfan Syndrome genetics radiography Syndrome Synostosis genetics radiography.
OMIM is intended for use primarily by physicians and other antlet concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Mental retardation does not occur and hand deformities are less pronounced than in Carpenter Syndrome.
None, Conflict of Interest: Kitoh H, et al.
Orphanet: Antley Bixler syndrome
Reardon W, et al. Children present with characteristic facial features, including a large domed forehead, flat nose, and midface hypoplasia with proptosis and synndrome ears. Reply to the letter to the editor by Gripp et al.
P oxidoreductase deficiency and the Antley-Bixler syndrome. Investigational Therapies Research on birth defects and their causes is ongoing. Summary Epidemiology It has been described in more than 30 patients.
Antley Bixler Syndrome – NORD (National Organization for Rare Disorders)
You can help by adding to it. A flat face with widely spaced eyes and a small jaw may also be found in children with this disorder. The risk is the same for each pregnancy. Early intervention may be important in ensuring that affected children reach their potential. Other symptoms, such as cardiac malformations, proptotic exophthalmos bulging eyesarachnodactyly spider-like fingers as well as nasalanal and vaginal atresia occlusion have been reported.
Expert curators review the literature and organize it to facilitate your work. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? Cell surface receptor deficiencies Autosomal recessive disorders Rare diseases Syndromes affecting the heart Cholesterol and steroid metabolism disorders Syndromes affecting the eyes Syndromes with craniofacial abnormalities.
There are two distinct genetic mutations associated with the Antley—Bixler syndrome phenotypewhich suggests the disorder may be genetically heterogeneous. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly.
They carry the genetic characteristics of each individual. In such cases, without prompt, appropriate treatment, potentially life-threatening complications may result. For example, in those with choanal atresia or stenosis, surgery or other appropriate methods may be required to decrease the airway obstruction or correct the malformation.
Antley-Bixler syndrome from a prognostic perspective: The National Institutes of Health NIH is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. Inborn errors of steroid metabolism. The forehead may bulge bixxler the orbit of the eye may be flat on one side.
Antley-Bixler Syndrome is typically characterized by distinctive malformations of the head and facial craniofacial area.
Differential diagnosis A similar clinical picture is antpey in patients exposed in utero to fluconazole, a lanosterol 14 alpha-demethylase inhibitor. Health care resources for this disease Expert centres Diagnostic tests 59 Patient organisations 29 Orphan drug s 0.
Musculoskeletal manifestations of the Antley-Bixler syndrome.
Rare Disease Database
Clinical description Children present with characteristic facial features, including a large domed forehead, flat nose, and midface hypoplasia with proptosis and dysplastic ears. However, in other affected individuals, Antley-Bixler Syndrome is thought to be caused by spontaneous sporadic mutations of a gene known as FGFR2 that may be transmitted as an autosomal dominant trait in subsequent generations.
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