Interventions may include intensive therapy, surgeries, and medication (i.e. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. 5: 11, 2013. 4. This is an informational website run by families with information about Bainbridge-Ropers Syndrome. The patients, who ranged in age from 4 to 22 years, were ascertained from the Deciphering Developmental Disorders (DDD) project. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype Am J Med Genet A. Feeding difficulties requiring support are frequent. 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. To ensure long-term funding for the OMIM project, we have diversified As the fertilized egg divides, each resulting cell in the growing embryo will have the mutation. Select the true statements about Millie and her syndrome. By continuing to use this website, you agree to the Terms of Service & Privacy Policy, A Podcast For The Rare Disease Community, Policy Statements & Letters to Policymakers. The Role of Additional Sex Combs-Like Proteins in Cancer. 25: 597-608, 2016. Bainbridge-Ropers Syndrome (BRS) is named after the genetic researchers who discovered the location of ASXL3 gene and documented some of the ways it affects people with the mutation. Three patients had a marfanoid habitus with arachnodactyly, tall stature, pes planus, and scoliosis. Clinical studies are medical research involving people as participants. ORPHA: 352577; A gene is a set of biochemical instructions that tell a cell how to manufacture a protein. J. Med. 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. 2. 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. 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. 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. Our Information Specialists are available to you by phone or by filling out our contact form. Contreras-Capetillo SNPinto-Escalante D. Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. [PubMed: 26647312] Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. When Della Calder was just one year old, Caitlin Calder noticed troubling issues with her daughter's early development. Three of the subjects had similar clinical histories, including severe psychomotor retardation, feeding problems, severe postnatal growth retardation, arched eyebrows, anteverted nares, and ulnar deviation of the hands. We would like to hear your feedback as we continue to refine this new version of the GARD website. 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. Treatment of Self-Injury in Bainbridge-Ropers Syndrome: Replication and Extensions of Behavioral Assessments. Q79.8 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. Donations are an important The disorder is due to loss of function mutations in ASXL3 gene (18q12.1). Unlike ASXL1 and ASXL2 mutations, ASXL3 mutations are rare events in acute myeloid leukemia with t(8;21). Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Hum. 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. donation now and again in the future. ASXL3 is one of approximately 20,000-25,000 genes that . Clinical application of whole-exome sequencing across clinical indications. Genome Med. The authors noted that the mutations reported by Bainbridge et al. [provided by RefSeq, May 2017] ASXL3 ASXL transcriptional regulator 3 [ (human)] Gene ID: 80816, updated on 22-Jan-2023 Summary B3GAT3 , encoding -1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Enroll in databases to allow researchers from participating institutions to find you. Check this site often for new trials that become available. It affects parts of the body including the spinal cord, liver, kidneys, and bone marrow. Scientific Director, OMIM. component of our efforts to ensure long-term funding to provide you the of the OMIM's operating expenses go to salary support for MD and PhD Precursor B-cell acute lymphoblastic leukemia in a pediatric patient with Bainbridge-Ropers syndrome. NIH Clinical Center Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene.It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania, hypersexuality and violence), sleep disorders and mood swings. (2016) identified 3 de novo heterozygous frameshift or nonsense mutations in the ASXL1 gene (615115.0005-615115.0007). Updating ICD-10 Codes . NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Please join your colleagues by making a Rare Diseases Resources for Refugees/Displaced Persons, section General Data Protection Regulation and data privacy (GDPR) and Confidentiality), Orphan designation(s) and orphan drug(s) (0). Cause: GARD does not currently have information about the cause of this condition. Our partnerships do not influence our editorial policy, © everythingpossible / Fotolia Orphanet version 5.54.0 - Last updated: Downs SM, van Dyck PC, Rinaldo P, et al. Expert curators Phone: 203-263-9938 55 Kenosia Avenue The core mission of Leo's Lighthouse is to find an effective therapy, and eventually a cure, for Bainbridge-Ropers Syndrome (BRS). -the traits caused by Millie's syndrome are Mendelian traits UniProtKB/Swiss-Prot: Leos Lighthouse raises funds for research and hosts a family meetup. The objective of this study is to describe the comorbid psychiatric aspects of BRPS. Srivastava et al. review the literature and organize it to facilitate your work. Hi, my name is Leo, and I have Bainbridge-Ropers Syndrome . [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. 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. A syndrome characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in fatal cases. Skeletal abnormalities, such as a "barrel chest", extremely high arched palate, This page was last edited on 13 February 2023, at 07:14. This is the American ICD-10-CM version of Q79.8 - other international versions of ICD-10 Q79.8 may differ. 2022 Sep 29. doi: 10.1002/ajmg.a.62981. The 2022 ICD-10-CM files below contain information on the ICD-10-CM updates for FY 2022. ICD-10-CM Diagnosis Code S14.147D ; Search Results. I know it is some type of gene mutation and I found lots of information never could really decide the best code to be used. A few patients had nonspecific minor abnormalities on brain imaging. They build public awareness of the disease and are a driving force behind research to improve patients' lives. Its our mission to change that. We estimate that there are approximately 150-200 people diagnosed in the world. De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature. Balasubramanian et al. Authors Schaida Schirwani 1 2 , Emily Woods 2 , David A Koolen 3 . All had delayed psychomotor development with moderate to profound intellectual disability and delayed walking. Note: Electronic Article. 54: 537-543, 2017. 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). This chromosomal change is sometimes written as 4p-. You can help Wikipedia by expanding it. Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care. Family finds answers, hope after discovery of rare genetic disorder. Donations are tax deductible to the fullest extent of the law. Symptoms of global development delay include hypotonia, delay in achieving independent sitting and walking, and marked language delay. (It is often impossible to tell exactly when a de novo mutation happened.) Dziedziczenie Przyczyn zespou mog by mutacje nonsensowne i missensowne genu ASXL3 zlokalizowanego na ramieniu dugim chromosomu 18 (18q12.1). The clinical features of Bainbridge-Ropers syndrome include severe psychomotor retardation, feeding difficulties, hypotonia and specific facial features, and the heterozygous nonsense variation in ASXL3 gene is the cause. The two best things you can do to advance research into Bainbridge-Ropers Syndrome are, participate in the registry and biobank and. Pervasive exposure of wild small mammals to legacy and currently used pesticide mixtures in arable landscapes. De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. science writers and biocurators. Three patients had controlled seizures and several had sleep problems. 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. Deciphering Developmental Disorders Study. 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. These findings highlighted a role for dynamic regulation of H2A ubiquitination in development and disease. A rare developmental disorder characterized by underdevelopment or absence of the pectoralis muscle in one side of the chest, usually associated with ipsilateral cutaneous syndactyly, and ipsilateral breast and nipple hypoplasia. Organizations: GARD is not currently aware of . 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. National Center for Health Statistics - ICD-10-CM Fiscal Year: Select Fiscal Year: FY2023 - October 1, 2022 FY2022 - includes January 2022 Addenda FY2021 - includes January 2021 Addenda FY2020 - includes April 1, 2020 Addenda FY2019 - October 1, 2018 Two patients were nonambulatory and 9 were nonverbal. Bainbridge-Ropers syndrome is a very rare genetic disorder characterized by abnormalities including more Search 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. [A case of Bainbridge-Ropers syndrome with autism in conjunct with ASXL3 gene variant and its clinical analysis]. This by far is I find is one of the hardest things I have tried to find correct code for. #1. The 2023 edition of ICD-10-CM Q79.8 became effective on October 1, 2022. In other cases, the mutation occurs in the fertilized egg shortly after the egg and sperm cells unite. BRS is a list of common traits and symptoms that some people have when their ASXL3 gene has a mutation. This free tool is designed to help billers and coders navigate the new ICD-10-CM code set. Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. Mar 31, 2016. 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. Decoding the byssus fabrication by spatiotemporal secretome analysis of scallop foot. Read more about what causes ASXL-related disorders information that you need at your fingertips. In 2013, Bainbridge-Ropers syndrome (MIM #615485) was described in patients with severe global developmental delay, postnatal microcephaly and feeding problems due to heterozygous loss of function variants in the ASXL3 gene. The treatment approach typically includes the management of any complications through a multidisciplinary team of medical specialists and therapists (speech therapy, physical therapy, occupational therapy, etc.). 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. [PubMed: 26647312, related citations] Richards SACMG Laboratory Quality Assurance Committee. As germline mosaicism has been described, prenatal diagnosis may be considered where the pathogenic variant has previously been identified in a family member. A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management. Genet. This region lies between the N-terminal protein scaffolding functional domains of the gene and the C-terminal chromatin/DNA-targeting functional domain. 615485 - BAINBRIDGE-ROPERS SYNDROME; BRPS Toggle navigation . Currently GARD aims to provide the following information for this disease: This section is currently in development. Among their cohort, Balasubramanian et al. The only specialty specific source of rare disease education and information. 57 New and Revised ICD-10-CM Codes for 2023. Distinct facial features include highly arched or delineated eyebrows and also synophrys, and frequently a highly arched palate. Bainbridge-Ropers Syndrome Awareness Day is February 5. Associated manifestations should also be coded. A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major. National Center for Advancing Translational Sciences. Genet. (2017) reported 12 unrelated patients with BRPS confirmed by genetic analysis. It may not display this or other websites correctly. ", "Familial BainbridgeRopers syndrome: Report of familial ASXL3 inheritance and a milder phenotype", https://en.wikipedia.org/w/index.php?title=BainbridgeRopers_syndrome&oldid=1139079027, Short description is different from Wikidata, Articles with unsourced statements from September 2021, Creative Commons Attribution-ShareAlike License 3.0. 1. Bainbridge Roper Syndrome is a rare genetic syndrome associated with a mutation in the ASXL3 gene. DO: 0080893; 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. 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 . Anyone from the U.S. can register with this free program funded by NIH. This article about a disease, disorder, or medical condition is a stub. You are using an out of date browser. Joint laxity and ulnar deviation of wrists are also frequently observed. ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. [2], Genetic changes that are described as de novo (new) mutations can be either hereditary or somatic. Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in ASXL3 gene. Online ahead of print. Learn about symptoms, cause, support, and research for a rare disease. Mosaicism in ASXL3-related syndrome: Description of five patients from three families. [PubMed: 23383720] (615485) (Updated 08-Dec-2022). Other frequent gastrointestinal features include gastroesophageal reflux and constipation. There has been limited research on Bainbridge-Ropers Syndrome and the other two ASXL syndromes (ASXL1/Bohring-Opitz Syndrome and ASXL2/Shashi-Pena Syndrome). 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. 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 . Disease Ontology: Orphanet doesn't provide personalised answers. An autosomal recessive disorder characterized by retinitis pigmentosa; polydactyly; obesity; mental retardation; hypogenitalism; renal dysplasia; and short stature. They may offer online and in-person resources to help people live well with their disease. 58 To get in touch with the Orphanet team, please contact. Note: Electronic Article. The entire sequence of an organism's genetic material is its genome. Copyright 1996-2023 , Weizmann Institute of Science. [3], Mutations in the Additional Sex Combs Like 3 (ASXL3) gene on the long arm of chromosome 18 (18q12.1) have been associated with this condition. for Bainbridge-Ropers Syndrome, Severe Feeding Difficulties-Failure to Thrive-Microcephaly Due to Asxl3 Deficiency Syndrome, Causative germline mutation (loss of function). Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome. There is no definitive antenatal diagnosis available, however ultrasound may show intrauterine growth retardation which should be investigated further. 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. Talk to a trusted doctor before choosing to participate in any clinical study. Intellectual disability ranges from moderate to severe. It was identified in fourteen males from one family in 1993. You must log in or register to reply here. Patient organizations are available to help find a specialist, or advocacy and support for this specific disease. BAP1/ASXL1 recruitment and activation for H2A deubiquitination. Case presentation We describe an 11-year old boy . (615485) (Updated 08-Dec-2022) (2013) identified a de novo heterozygous 4-bp deletion in the ASXL3 gene resulting in frameshift and premature termination (g.31319343_31319346delACAG, Thr659FsTer41). Learn about the new and revised codes for fiscal year (FY) 2023, effective October 1, 2022. Most of the patients described so far had been confirmed by next generation sequencing techniques. 1900 Crown Colony Drive Background Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Dotychczas opisano na wiecie kilkanacioro dzieci. 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. Signs and symptoms [ edit] Morphological features of this syndrome include: [1] Arched eyebrows Anteverted nares Bainbridge-Ropers syndrome (BRS; OMIM 615485) is characterized by failure to thrive, craniofacial defects, feeding problems, global developmental delay, hypotonia, intellectual disability and delays in language acquisition ( Bainbridge et al., 2013; Russell and Graham, 2013 ). 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. OMIM: Orphanet: Find facts, sharable graphics, Bainbridge-Ropers Syndrome merchandise and more on our Awareness Days page. We dont know how many people have an accurate diagnosis. 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.
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