Bainbridge-Roper syndrome (BRS) - Bainbridge-Roper syndrome is a congenital and developmental disorder caused by mutations in the ASXL3 gene, similar to the gene that causes BOS. Mosaicism in ASXL3-related syndrome: Description of five patients from three families. 1900 Crown Colony Drive An autosomal recessive disorder characterized by retinitis pigmentosa; polydactyly; obesity; mental retardation; hypogenitalism; renal dysplasia; and short stature. 11 On this Wikipedia the language links are at the top of the page across from the article title. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate. 5: 11, 2013. PURA syndrome - About the Disease - Genetic and Rare Diseases [Full Text: https://doi.org/10.1186/gm415], Balasubramanian, M., Willoughby, J., Fry, A. E., Weber, A., Firth, H. V., Deshpande, C., Berg, J. N., Chandler, K., Metcalfe, K. A., Lam, W., Pilz, D. T., Tomkins, S., DDD Study. Brain imaging, performed in 2 patients, showed loss of white matter; 1 patient had a thin corpus callosum. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that, for each pregnancy, there is 50% risk of passing the mutation to offspring. Find resources for patients and caregivers that address the challenges of living with a rare disease. There is significant variability in the severity of symptoms of people who have Bainbridge-Ropers Syndrome and we dont yet have a good understanding of why that is. Bainbridge-Ropers syndrome (BRS; OMIM 615485) is characterized by failure to thrive, feeding problems, global developmental delay, hypotonia, intellectual disability (ID) and delays in language acquisition ( 1 ). 2023 ICD-10-CM | CMS - Centers for Medicare & Medicaid Services To ensure long-term funding for the OMIM project, we have diversified ASXL3/Bainbridge-Ropers Syndrome For more information, visit GARD. Expert reviewer(s): Dr Irene VALENZUELA PALAFOLL | ITHACA* - Last update: March 2021, Our Website does not host any form of advertising 58 Leos Lighthouse raises funds for research and hosts a family meetup. Its our mission to change that. Unique, an organization that provides information on rare disorders, has a downloadable document about Bainbridge-Ropers Syndrome. When Della Calder was just one year old, Caitlin Calder noticed troubling issues with her daughter's early development. donation now and again in the future. Presentation is usually in the first months of life; however, intrauterine growth retardation has been reported in some cases. . (2017) reported 12 unrelated patients with BRPS confirmed by genetic analysis. ICD-10-CM Diagnosis Code S14.147D ; Search Results. The patients had common, if variable, dysmorphic features, including prominent forehead, narrow head, hypertelorism, down- or upslanting palpebral fissures, strabismus, high-arched eyebrows, long tubular nose, prominent nasal bridge, broad or bulbous nasal tip, low columella, open mouth with everted lower lip, high-arched palate, and crowded teeth. Our partnerships do not influence our editorial policy, © everythingpossible / Fotolia Orphanet version 5.54.0 - Last updated: Washington, DC 20036 [PubMed: 26647312] The following resources have been approved by our Medical and Scientific Advisors as relevant reading for families looking to learn more about Bainbridge-Ropers Syndrome: Gene Reviews: ASXL3-Related Disorder (Bainbridge-Ropers Syndrome), American Journal of Medical Genetics: Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3, American Journal of Human Genetics: Familial Bainbridge-Ropers syndrome: Report of familialASXL3inheritance and a milder phenotype, Genome Medicine: De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. UniProtKB/Swiss-Prot: Many rare diseases have limited information. Genome Med. (2016) identified 3 de novo heterozygous frameshift or nonsense mutations in the ASXL1 gene (615115.0005-615115.0007). We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic . Clinical Features Rozpowszechnienie: nieznane. (2017) identified 12 different de novo heterozygous nonsense or frameshift mutations in the ASXL3 gene (see, e.g., 615115.0006 and 615115.0008). Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3. BRS is a list of common traits and symptoms that some people have when their ASXL3 gene has a mutation. accessible. ICD 10 Codes: What They Mean and How to Look Them Up - Verywell Health NIH Clinical Center 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 ). In 2022, the ICD codes will change again with the addition of two numbersone that precedes the letter and one that comes at the end. information that you need at your fingertips. Were funding research grants and we support the ASXL Patient Registry and Biobank. [Analysis of clinical feature and genetic variants in two Chinese pedigrees affected with Bainbridge-Ropers syndrome]. Srivastava et al. About ASXL3/Bainbridge-Ropers Syndrome (BRS) Overview About Bainbridge-Ropers Syndrome is caused by a de novo (new) mutation of the ASXL3 gene. MalaCards based summary: 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. Bainbridge-Ropers syndrome - National Organization for Rare Disorders Interventions may include intensive therapy, surgeries, and medication (i.e. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature . The authors noted that the mutations reported by Bainbridge et al. Deciphering Developmental Disorders Study. 2022 Sep 29. doi: 10.1002/ajmg.a.62981. Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., Chen, W., Gripp, K. W., Jenny, K., Wienker, T. F., Yang, Y., Sutton, V. R., Gibbs, R. A., Ropers, H. H. Orphanet: Bainbridge Ropers syndrome 73 They had variable dysmorphic features, including arched eyebrows, downslanting palpebral fissures, broad nasal bridge with short nose and anteverted nares, low-set ears, and small chin. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. A (n) chromosome is a long DNA molecule wrapped around proteins and wound tightly. Note, GARD cannot enroll individuals in clinical studies. Read more about what causes ASXL-related disorders. Talk to a trusted doctor before choosing to participate in any clinical study. Weird world of DNA: What's the best way to help patients with genetic [PubMed: 23383720] Over 90% National Center for Advancing Translational Sciences. Mar 31, 2016. A gene is a set of biochemical instructions that tell a cell how to manufacture a protein. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care. We hope you find it helpful, and thanks for stopping by! J. Med. All Rights Reserved. [Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review]. #1. Cause: GARD does not currently have information about the cause of this condition. Fibroblasts derived from 1 of the patients with a frameshift mutation in the 5-prime cluster region (c.1448dupT; 615115.0005) showed about a 50% decrease in ASXL1 mRNA and protein levels, consistent with haploinsufficiency. J. Med. There has been limited research on Bainbridge-Ropers Syndrome and the other two ASXL syndromes (ASXL1/Bohring-Opitz Syndrome and ASXL2/Shashi-Pena Syndrome). ICD-10-CM instructional notes specify that any underlying cause (e.g., complications following infusion and therapeutic injection [ T80.89 -], complications of transplanted organs and tissue [ T86.- ]) should be coded before using these new D89.83 - codes. Pervasive exposure of wild small mammals to legacy and currently used pesticide mixtures in arable landscapes. (2013) clustered mainly within the 5-prime end of exon 11 between codons 404 and 659. Fax: 203-263-9938, Washington, DC Office [citation needed], This condition was first described by Bainbridge et al in 2013.[2]. You must log in or register to reply here. 615485 - BAINBRIDGE-ROPERS SYNDROME; BRPS Toggle navigation . [2], Diagnosis can only be made by genetic testing. [PubMed: 28100473, related citations] Her brother, Archer, wanted to. Q79.8 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. Med Sci Sports. Intellectual disability ranges from moderate to severe. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. It is characterized by failure to thrive, feeding problems, hypotonia, intellectual disability (ID), autism, postnatal growth retardation, abnormal facial features and delays in language acquisition. Hi, my name is Leo, and I have Bainbridge-Ropers Syndrome . Note: Electronic Article. About ASXL3 & BRS | mysite OMIM: Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Symptoms ASXL3-related syndrome can affect communication, social, and learning skills. 57 54: 537-543, 2017. Diagnosis is based on presentation of clinical features, and can be confirmed by genetic testing. Bainbridge-Ropers Syndrome, also known as severe feeding difficulties-failure to thrive-microcephaly due to asxl3 deficiency syndrome, is related to bohring-opitz syndrome and microcephaly. Healthy volunteers may also participate to help others and to contribute to moving science forward. Unfortunately, it is not free to produce. Laurence-moon syndrome is a separate entity. Bainbridge-Ropers Syndrome is caused by a de novo (new) mutation of the ASXL3 gene. ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome. 2. 54: 537-543, 2017. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. The two best things you can do to advance research into Bainbridge-Ropers Syndrome are, participate in the registry and biobank and. Scientific Director, OMIM. Precursor B-cell acute lymphoblastic leukemia in a pediatric patient with Bainbridge-Ropers syndrome. We estimate that there are approximately 150-200 people diagnosed in the world. From Next Generation Sequence to the Phenotype: Exploring the These 2023 ICD-10-CM codes are to be used for discharges occurring from October 1, 2022 through September 30, 2023 and for patient encounters occurring from October 1, 2022 through September 30, 2023. [Full Text], Balasubramanian, M., Willoughby, J., Fry, A. E., Weber, A., Firth, H. V., Deshpande, C., Berg, J. N., Chandler, K., Metcalfe, K. A., Lam, W., Pilz, D. T., Tomkins, S., DDD Study. (615485) (Updated 08-Dec-2022) Genet. 5: 11, 2013. Downs SM, van Dyck PC, Rinaldo P, et al. "De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome", "What is a gene mutation and how do mutations occur? In some reported cases Cornelia de Lange syndrome was suspected due to feeding difficulties, developmental delay and eyebrow characteristics. Functional studies of the variants and studies of patient cells were not performed, but all were predicted to result in a loss of function. impaired intellectual development, severe to profound, nonspecific white matter abnormalities on brain imaging. Currently GARD aims to provide the following information for this disease: Population Estimate: This section is currently in development. Icd-10-cm There were no phenotypic differences between patients with mutations in the different cluster regions. We dont know how many people have an accurate diagnosis. MR spectroscopy was normal. BainbridgeRopers syndrome is a very rare genetic disorder characterized by abnormalities including severe psychomotor development, feeding problems, severe postnatal growth delays, intellectual disabilities, and skeletal abnormalities. A syndrome characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in fatal cases. Comorbid Psychiatric Aspects of Bainbridge-Ropers Syndrome. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality). Some of the most common characteristics include: Intellectual disability of varying severity, Developmental delay of varying severity, including speech delay or absent speech, Behavioral concerns, including features of autism, Feeding difficulties (particularly in infancy), including cyclic vomiting. The clinic also follows patients with other chromatin-related disorders including but not limited to Kabuki Syndrome, Rubinstein-Taybi Syndrome, Wolf-Hirschhorn Syndrome, Coffin-Siris Syndrome, and Nicolaides-Baraitser . The documents contained in this web site are presented for information purposes only. One copy of Millie's ASXL3 gene is missing two DNA bases, creating an inappropriate "stop" codon and shortening the encoded proteins. ASXL3-related syndrome is also known as Bainbridge-Ropers syndrome or BRPS. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The disorder is due to loss of function mutations in ASXL3 gene (18q12.1). Reference: Data from the Newborn Screening Codingand Terminology Guide is available here. Driving Simulator Brake Reaction Parameters After Total Hip Arthroplasty According to Different Surgical Approaches. Millie McWilliams has Bainbridge-Ropers syndrome, in which she is missing two DNA bases in the ASXL3 gene. It was identified in fourteen males from one family in 1993. To find the right clinical study we recommend you: ResearchMatch helps connect people interested in research studieswith researchers from top medical centers across the United States. However, the symptoms can be treated. A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management. Transcriptome analysis of these cells showed dysregulation of many genes, including those involved in transcriptional regulation, development, and proliferation, as well as in digestive tract development. A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has material basis in heterozygous mutation in the ASXL3 gene on chromosome 18q12. our revenue stream. Large-scale discovery of novel genetic causes of developmental disorders. Caitlin Calder, a parent of a child with Bainbridge-Ropers Syndrome, created the Bainbridge-Ropers Syndrome and ASXL3 Families support group as a private Facebook page in 2014 with just a handful of members. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Objective: To investigate the clinical manifestations and genetic features of a child with Bainbridge-Ropers syndrome caused by ASXL3 gene variation and review the literature. Bainbridge-Ropers syndrome - Wikipedia Updating ICD-10 Codes . Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease. The petroleum ether extract of Brassica rapa L. induces apoptosis of lung adenocarcinoma cells via the mitochondria-dependent pathway. References/Resources About ASXL3/Bainbridge-Ropers Syndrome (BRS) - ASXL Rare Research The Role of Additional Sex Combs-Like Proteins in Cancer. Many collaborate with medical experts and researchers.Services of patient organizations differ, but may include: Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. This region lies between the N-terminal protein scaffolding functional domains of the gene and the C-terminal chromatin/DNA-targeting functional domain. In 12 unrelated patients with BRPS, Balasubramanian et al. As genetic testing becomes more widely accessible, we are learning of more people who have been living undiagnosed with Bainbridge-Ropers Syndrome for many years. Only 1 subject had brain MRI, which showed global mild white matter volume loss, secondary brainstem hypoplasia, and bilateral hypoplasia/dysplasia of cerebellar tonsils. To get in touch with the Orphanet team, please contact. Tax ID: 82-3890665, 2023 ASXL Rare Research Endowment Foundation, Medical disclaimer Privacy policy Contact, Read more about what causes ASXL-related disorders, Bainbridge-Ropers Syndrome and ASXL3 Families support group. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. Given the multisystemic involvement, multidisciplinary follow-up is needed and should include neurological follow up, developmental assessments, physiotherapy (particularly for joint laxity and musculoskeletal issues), feeding interventions for those with persistent feeding issues, and ophthalmologic follow up for patients with strabismus and/or refractive error. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype Am J Med Genet A. Dotychczas opisano na wiecie kilkanacioro dzieci. Bristol Rabbit Pain Scale (BRPS): clinical utility, validity and reliability. Patients may exhibited skeletal anomalies including scoliotic attitude, joint laxity, pectus excavatum or carinatum and ulnar deviation of wrists. GARD does not currently have information about the cause of this condition. All had delayed psychomotor development with moderate to profound intellectual disability and delayed walking. Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in ASXL3 gene. Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. The MalaCards human disease database index: See all MalaCards categories (disease lists), Congenital malformations, deformations and chromosomal abnormalities, Other specified congenital malformation syndromes affecting multiple systems, Congenital malformation syndromes predominantly affecting facial appearance, congenital hemidysplasia with ichthyosiform erythroderma and limb defects, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a, attention deficit-hyperactivity disorder 3, cerebellar atrophy, developmental delay, and seizures, epilepsy with generalized tonic-clonic seizures, core binding factor acute myeloid leukemia, congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, autosomal dominant intellectual developmental disorder, microcephaly 11, primary, autosomal recessive, microcephaly 5, primary, autosomal recessive, RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known, abnormal cerebral white matter morphology, Clinical Registry for ASXL-Related Disorders and Disorders of Chromatin Remodeling, Activator Of Transcription And Developmental Regulator AUTS2, O-Linked N-Acetylglucosamine (GlcNAc) Transferase, Progesterone Immunomodulatory Binding Factor 1, NM_030632.3(ASXL3):c.1210C>T (p.Gln404Ter), NM_030632.3(ASXL3):c.1396C>T (p.Gln466Ter), NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs), NM_030632.3(ASXL3):c.1422dup (p.Glu475Ter), NM_030632.3(ASXL3):c.1192_1195del (p.Thr398fs), NM_030632.3(ASXL3):c.1682C>A (p.Ser561Ter), NM_030632.3(ASXL3):c.1961dup (p.Ser654_Ser655insTer), NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter), NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter), NM_030632.3(ASXL3):c.3364C>T (p.Gln1122Ter), NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter), NM_030632.3(ASXL3):c.1448dup (p.Thr484fs), NM_030632.3(ASXL3):c.4144C>T (p.Gln1382Ter), NM_030632.3(ASXL3):c.1500del (p.Glu500fs), NM_030632.3(ASXL3):c.1351C>T (p.Gln451Ter), NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs), NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu), NM_030632.3(ASXL3):c.1884_1885del (p.Gly629fs), NM_030632.3(ASXL3):c.3330_3333dup (p.Ala1112fs), NM_030632.3(ASXL3):c.3494_3495del (p.Asn1164_Cys1165insTer), NM_030632.3(ASXL3):c.3827_3830dup (p.Asn1278fs), GRCh37/hg19 3p24.1-23(chr3:30863773-31433693)x1, NM_030632.3(ASXL3):c.4322C>G (p.Ser1441Ter), NM_030632.3(ASXL3):c.4164dup (p.Thr1389fs), NM_030632.3(ASXL3):c.1354del (p.Glu452fs), NM_030632.3(ASXL3):c.4211_4212del (p.Thr1404fs), NM_030632.3(ASXL3):c.1738G>T (p.Glu580Ter), NM_030632.3(ASXL3):c.4904dup (p.Gln1636fs), NM_030632.3(ASXL3):c.3964C>T (p.Gln1322Ter), NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter), NM_030632.3(ASXL3):c.1535T>A (p.Leu512Ter), NM_030632.3(ASXL3):c.1189C>T (p.Gln397Ter), NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs), NM_030632.3(ASXL3):c.4087_4088delinsG (p.Met1363fs), NM_030632.3(ASXL3):c.1821del (p.Ala606_Cys607insTer), NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs), NM_030632.3(ASXL3):c.3621dup (p.Pro1208fs), NM_030632.3(ASXL3):c.1444del (p.Ser482fs), NM_030632.3(ASXL3):c.3049del (p.Ser1017fs), NM_030632.3(ASXL3):c.5819del (p.Gly1940fs), NM_030632.3(ASXL3):c.1479_1480del (p.Pro494fs), NM_030632.3(ASXL3):c.1939dup (p.Thr647fs), NM_030632.3(ASXL3):c.1207C>T (p.Gln403Ter), NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs), NM_030632.3(ASXL3):c.3137_3144del (p.Gly1046fs), NM_030632.3(ASXL3):c.1269C>A (p.Cys423Ter), NM_030632.3(ASXL3):c.1864dup (p.Cys622fs), NM_030632.3(ASXL3):c.4899T>A (p.Tyr1633Ter), positive regulation of transcription by RNA polymerase II, peroxisome proliferator activated receptor binding. Best answers. The patients were ascertained from the Deciphering Developmental Disorders (DDD) project, and the mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. JavaScript is disabled. Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3 Box 4662Portland, ME 04112U.S.A.info@arrefoundation.org, We are recognized in the United States as a 501(c)3 nonprofit organization. Table of Contents. About the ICD-10 Code Lookup. We are determined to keep this website freely (2017) noted that 5 of the identified mutations occurred within the original cluster region, whereas 7 occurred 3-prime to this region, suggesting a second cluster region between codons 1045 and 1444. This is an informational website run by families with information about Bainbridge-Ropers Syndrome. Entry - #615485 - BAINBRIDGE-ROPERS SYNDROME; BRPS - OMIM Have a good day!! They may offer online and in-person resources to help people live well with their disease. Morphological features of this syndrome include:[1], This condition is caused by a mutation in the ASXL3 gene, which is considered a de novo mutation. GENECARDS SUITE PRODUCTS ARE FOR RESEARCH USE ONLY, DO NOT PROVIDE MEDICAL ADVICE AND ARE NOT FOR USE IN DIAGNOSTIC PROCEDURES. The patients, who ranged in age from 4 to 22 years, were ascertained from the Deciphering Developmental Disorders (DDD) project. An important gene associated with Bainbridge-Ropers Syndrome is ASXL3 (ASXL Transcriptional Regulator 3), and among its related pathways/superpathways are Metabolism of proteins and Malignant pleural mesothelioma. 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). Disease Ontology: It is also important to counsel affected families about the possibility of recurrence due to germline mosaicism. Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. Our Information Specialists are available to you by phone or by filling out our contact form. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome]. Short description: Oth congenital malformation syndromes, NEC, This is the American ICD-10-CM version of, Codes from this chapter are not for use on maternal records, code(s) to identify all associated manifestations. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 [Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and (2016) reported 3 unrelated patients with BRPS. Find resources for patients and caregivers that address the challenges of living with a rare disease, Learn more about the different types of clinical studies, ResearchMatch helps connect people interested in research studies, UMLSVocabulary Standards and Mappings Downloads, Access aggregated data from Orphanet at Orphadata, National Center for Biotechnology Information's, Newborn Screening Coding and Terminology Guide, Improving newborn screening laboratory test ordering and result reporting using health information exchange, Health Literacy Online: A Guide for Simplifying the User Experience, U.S. Department of Health & Human Services, National Center for Advancing Translation Sciences, Ways to connect to others and share personal stories, Up-to-date treatment and research information, Lists of specialistsor specialty centers.