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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In addition, certain joints may become permanently flexed or extended in fixed postures joint contracturesresulting in restricted movements. Some individuals with Antley-Bixler Syndrome may have additional physical abnormalities.
Rare Disease Database
Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal for that particular trait. Mental retardation does not occur and hand deformities are less pronounced than in Carpenter Syndrome.
In many cases, the disorder appears to be inherited as an autosomal recessive trait. The prognosis is poor with the majority of reported patients dying during infancy due to respiratory complications. Am J Med Genet.
Urogenital anomalies with sexual ambiguity due to impaired steroidogenesis can occur. They reported abnormalities of steroid biogenesis in 7 of 16 patients with an Antley-Bixler phenotype. We need long-term secure funding to provide you the information that you need at your fingertips. Surgery may also be recommended to correct certain craniofacial, skeletal, cardiac, urogenital, or other abnormalities potentially associated with the disorder.
In most affected infants, there is premature closure of the fibrous joints sutures between bones antely the front, upper sides, and back portion of the skull i. Childs Nerv Syst ; None, Conflict of Interest: Description of two new cases and a review of the literature. If an individual receives one normal gene and one gene for the disease, the person will be a carrier synerome the disease but usually will not show symptoms.
Genetic counseling will also be of benefit for ahtley with Antley-Bixler Syndrome and their families. Antley-Bixler Syndrome is typically characterized by distinctive malformations of the head and facial craniofacial area.
Antley—Bixler syndrome is named after Drs. Diagnosis In some cases, a diagnosis of Antley-Bixler Syndrome may be suggested before birth prenatally based upon specialized tests such as ultrasound. Antley—Bixler syndrome has an autosomal recessive pattern of inheritance.
Home Subscribe Feedback Login. About News Events Contact. CC HPO: This disorder is also known as Acrocephalosyndactyly Type II.
Comparisons may be useful for a differential diagnosis:. Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial craniofacial area and additional skeletal abnormalities. During fetal ultrasonography, reflected sound waves are used to generate an image of the developing fetus. Ultrasound studies may reveal characteristic findings that may be associated with the disorder.
Am J Med Genet ; When grown in the absence of cholesterol to stimulate cholesterol biosynthesis, cells from this patient accumulated markedly increased levels of lanosterol and dihydrolanosterol. Intellectual development is variable. These may include fusion of adjacent bones of the arms, particularly the forearm bone on the thumb side of the arm radius and the long bone of syndroome upper arm radiohumeral synostosis.
All studies receiving U. Health care resources for this disease Expert centres Diagnostic tests 59 Patient organisations 29 Orphan drug s 0.
Antley–Bixler syndrome – Wikipedia
Information on current clinical trials is posted on the Internet at www.