The authors noted that the mutations reported by Bainbridge et al. PURA syndrome - About the Disease - Genetic and Rare Diseases Patients may exhibited skeletal anomalies including scoliotic attitude, joint laxity, pectus excavatum or carinatum and ulnar deviation of wrists. All had feeding difficulties necessitating a feeding tube, failure to thrive, hypotonia, and developmental delay with absent speech and poor or absent independent walking. Family finds answers, hope after discovery of rare genetic disorder Bainbridge et al. In 12 unrelated patients with BRPS, Balasubramanian et al. Washington, DC 20036 Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016 ). A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. A number sign (#) is used with this entry because Bainbridge-Ropers syndrome (BRPS) is caused by heterozygous mutation in the ASXL3 gene (615115) on chromosome 18q12. Healthy volunteers may also participate to help others and to contribute to moving science forward. Our Information Specialists are available to you by phone or by filling out our contact form. Learn about symptoms, cause, support, and research for a rare disease. Presentation is usually in the first months of life; however, intrauterine growth retardation has been reported in some cases. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome]. We dont know how many people have an accurate diagnosis. Read more about what causes ASXL-related disorders. Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
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