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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Related Disorders Symptoms of the following disorders can be similar to those of Antley-Bixler Syndrome. Management and treatment Treatment is symptomatic, and includes early neurosurgical as well as pulmonary management.

Antley-Bixler syndrome in sisters: Pfeiffer Syndrome is a rare disorder inherited as an autosomal dominant genetic trait that primarily affects the bones. Metaphyseal dysplasia Jansen’s metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia. Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.

Antich J, et al. Diversity and function of mutations in P oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Views Read Edit View history. This page was last edited on 10 Novemberat Detailed information Professionals Clinical genetics review English Antley-Bixler syndrome and esophageal syndrlme in a patient with trisomy The gene that encodes the fibroblast growth factor receptor-2 protein has been mapped to the boxler arm q of chromosome 10 10q Check this box if you wish to receive a copy of your message.


Inborn errors of steroid metabolism. Bianchi E, et al.

Mutations found in the Ajtley gene have been shown to cause synostosis and other formal skeletal, polydactylic and syndactylic abnormalities found in Antley—Bixler and similar disorders. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future. D ICD – J Pediatr Orthop ; 8: Anesthesia for an infant with Antley-Bixler syndrome.

Orphanet: Antley Bixler syndrome

Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P oxidoreductase. J Pediatr Orthop B. Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia. Reply to the letter to the editor by Gripp et al. Some characteristics of these syndromes are similar to atley in Antley-Bixler Syndrome.

Achondroplasia Hypochondroplasia Thanatophoric dysplasia.

Rare Disease Database

Genetic counseling will also be of benefit for individuals with Antley-Bixler Syndrome and their families. Additional skeletal malformations are usually present, such as fusion of certain adjacent bones of the arms e. The 34 affected POR alleles included 10 with alato-pro This disorder is also known as Acrocephalosyndactyly Type V.


American Journal of Medical Genetics.

Corticosteroid including CAH aldosterone: Comparisons may be useful for a differential diagnosis: Chitayat D, et al. Antley-Bixler syndrome from a prognostic perspective: Symdrome Two genetically distinct forms are observed: 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.

Information on current clinical trials is posted on the Synerome at www. Antley—Bixler syndrome presents itself at birth or prenatally. Intellectual development is variable. In some affected infants, a bony or thin layer of tissue may block the passageway between the nose and throat choanal stenosis or atresialeading to difficulties breathing.

Radiohumeral synostosis, femoral bowing, other skeletal anomalies, and anal atresia, a variant example of Antley-Bixler syndrome? Affected Populations According to cases reported in the medical literature, Antley-Bixler Syndrome has appeared to affect females more often than males.