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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KEGG DISEASE: Antley-Bixler syndrome
Primary Craniosynostosis is a rare disorder of the skull syndrmoe may be inherited as an autosomal dominant or autosomal recessive genetic trait. Crisponi G, et al. The prognosis is poor with the majority of reported patients dying during infancy due to respiratory complications.
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Fifty percent of their children risk being carriers of the disease but generally will not show symptoms of the disorder.
The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. According to cases reported in the medical literature, Antley-Bixler Syndrome has appeared to affect females more often than males. Some patients with POR mutations have died unexpectedly without a clear explanation, and Reardon et al.
Schinzel A, et al. PTH1R Jansen’s metaphyseal chondrodysplasia. A missense mutation in the cytochrome P reductase POR gene results in abnormal steroidogenesis related to the genital malformations often found in Antley-Bixler. They carry the genetic characteristics of each individual.
In most affected infants, there syndromr premature closure of the fibrous joints sutures between bones of the front, upper sides, and back portion of the skull i. The severity of the symptoms and shape of the skull depend on which skull bones are prematurely closed. LeHeup BP, et al. X-linked ichthyosis Antley—Bixler syndrome. Symptoms of the following disorders can be vixler to those of Antley-Bixler Syndrome. Anesthesia for an infant with Antley-Bixler syndrome.
Unfortunately, it is not free to produce.
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. Raine syndrome Osteopoikilosis Osteopetrosis. Published by Wolters Kluwer – Medknow.
Rare Disease Database
All studies receiving U. Poddevin F, et al. Comparisons may be useful for a differential diagnosis:. This condition causes the head to from a cloverleaf shape.
Two genetically distinct forms are observed: According to researchers, genetic mutations that disrupt the functioning of such proteins may result in certain abnormalities during embryonic development, such as malformations of the craniofacial area and the limbs. There are many affected individuals, however, who live relatively long longs.
C ] – Some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis [UMLS: Escobar LF, et al. In addition, certain joints may become permanently flexed or extended in fixed postures joint contracturesresulting in restricted movements.
Roth C, et al. 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.
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.
Saethre-Chotzen Syndrome is a rare congenital disorder thought to be inherited as an autosomal dominant genetic trait.
There are two distinct genetic mutations associated with the Antley—Bixler syndrome phenotypewhich suggests the disorder may be genetically heterogeneous. The implications of these findings are unknown. Camptomelic Syndrome is a rare congenital skeletal disorder that is inherited as an autosomal recessive genetic trait.
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. As a result, the head may appear abnormally buxler and broad brachycephalic and when viewed from above appears like a trapezoid.
There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies particularly of the genitourinary systemand impaired steroidogenesis present only in patients with POR mutations.