bainbridge ropers syndrome icd 10 code

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. Joint laxity and ulnar deviation of wrists are also frequently observed. Note, GARD cannot enroll individuals in clinical studies. Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. This syndrome has been distinguished as a separate entity from laurence-moon syndrome. 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 ). Decoding the byssus fabrication by spatiotemporal secretome analysis of scallop foot. OMIM: 57 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 this context, annotation back-references refer to codes that contain: "Present On Admission" is defined as present at the time the order for inpatient admission occurs conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery, are considered POA. 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. The disorder is due to loss of function mutations in ASXL3 gene (18q12.1). Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. For example, X98.6 (ICD-10 code) will become 0X98.60. 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. One copy of Millie's ASXL3 gene is missing two DNA bases, creating an inappropriate "stop" codon and shortening the encoded proteins. The core mission of Leo's Lighthouse is to find an effective therapy, and eventually a cure, for Bainbridge-Ropers Syndrome (BRS). De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. It may not display this or other websites correctly. Validation of the lithuanian version of the self-evaluation of negative symptoms scale (SNS). The entire sequence of an organism's genetic material is its genome. Other frequent gastrointestinal features include gastroesophageal reflux and constipation. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Q79.8 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. ICD-10 Basics Check out these videos to learn more about ICD-10. 54: 537-543, 2017. 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. 54: 537-543, 2017. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. How a US teen developed an app to help his sister talk Della has a rare genetic condition called Bainbridge-Ropers Syndrome which affects her ability to speak. The two best things you can do to advance research into Bainbridge-Ropers Syndrome are, participate in the registry and biobank and. Genome Med. We would like to hear your feedback as we continue to refine this new version of the GARD website. Molec. [Analysis of clinical feature and genetic variants in two Chinese pedigrees affected with Bainbridge-Ropers syndrome]. [PubMed: 28100473, related citations] - Caused by mutation in the additional sex combs-like 3 gene (ASXL3, Cassandra L. Kniffin - updated : 04/11/2018. Suite 310 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. The disorder is autosomal dominant; however, no familial transmission has been observed so far. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. [PubMed: 23383720] The Human Gene Mutation Database (HGMD): optimizing its use in a clinical diagnostic or research setting. Using whole-exome and whole-genome sequencing, Bainbridge et al. ASXL3-related syndrome is also known as Bainbridge-Ropers syndrome or BRPS. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype Am J Med Genet A. 2. (2017) reported 12 unrelated patients with BRPS confirmed by genetic analysis. 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.). 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. It is also important to counsel affected families about the possibility of recurrence due to germline mosaicism. Orphanet: A gene is a set of biochemical instructions that tell a cell how to manufacture a protein. Were funding research grants and we support the ASXL Patient Registry and Biobank. Authors Schaida Schirwani 1 2 , Emily Woods 2 , David A Koolen 3 . Clinical studies are medical research involving people as participants. 57 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: https://doi.org/10.1136/jmedgenet-2016-104360], Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L. [Full Text], Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L. Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. 15. Quincy, MA 02169 [Full Text]. 1.4K members Join group About Discussion More About Discussion About this group This page is dedicated to families with children who have Bainbridge Ropers-Syndrome and ASXL3 genetic mutation. information that you need at your fingertips. 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. On this Wikipedia the language links are at the top of the page across from the article title. Most also had autistic features and 11 were in a special needs school. Brain imaging, performed in 2 patients, showed loss of white matter; 1 patient had a thin corpus callosum. Update List ; Entry Statistics ; Phenotype-Gene Statistics ; Downloads . These cells showed significantly increased levels of H2AK119Ub1, indicating that this mutation disrupts the normal activity of the polycomb repressive deubiquitination (PR-DUB) complex, which functions to remove the monoubiquitin from lysine-119 of histone H2A (H2AK119Ub1), thus playing a role in chromatin remodeling and transcriptional regulation. Case report : a novel ASXL3 gene variant in a Sudanese boy. Mar 31, 2016. There has been limited research on Bainbridge-Ropers Syndrome and the other two ASXL syndromes (ASXL1/Bohring-Opitz Syndrome and ASXL2/Shashi-Pena Syndrome). These findings highlighted a role for dynamic regulation of H2A ubiquitination in development and disease. Patient organizations can help patients and families connect. Suite 500 Ada Hamosh, MD, MPH of the OMIM's operating expenses go to salary support for MD and PhD 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. [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. It affects parts of the body including the spinal cord, liver, kidneys, and bone marrow. 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. 55 Kenosia Avenue About PURA syndrome. This chromosomal change is sometimes written as 4p-. Unique, an organization that provides information on rare disorders, has a downloadable document about Bainbridge-Ropers Syndrome. For all other comments, please send your remarks via contact us. NIH Clinical Center The 2023 edition of ICD-10-CM Q79.8 became effective on October 1, 2022. 04/10/2018 Edit History: joanna : 08/20/2021 joanna : 08/20/2021 joanna : 05/11/2018 ckniffin : 04/11/2018 . Associated manifestations should also be coded. Audiology; Speech-Language Pathology; ICD-10-CM Code Lists (updated October 1, 2022) Audiology and SLP related disorders have been culled from approximately 68,000 codes into manageable, discipline-specific lists. Reference: Data from the Newborn Screening Codingand Terminology Guide is available here. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3. A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major. 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. Orphanet doesn't provide personalised answers. Treatment of Self-Injury in Bainbridge-Ropers Syndrome: Replication and Extensions of Behavioral Assessments. [provided by RefSeq, May 2017] ASXL3 ASXL transcriptional regulator 3 [ (human)] Gene ID: 80816, updated on 22-Jan-2023 Summary Her brother, Archer, wanted to. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. Genet. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. It can resemble Bohring-Opitz syndrome but is not the same. Richards SACMG Laboratory Quality Assurance Committee. Functional studies of the variants and studies of patient cells were not performed, but all were predicted to result in a loss of function. NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, Washington, DC 20036 There were no phenotypic differences between patients with mutations in the different cluster regions. This by far is I find is one of the hardest things I have tried to find correct code for. Best answers. We estimate that there are approximately 150-200 people diagnosed in the world. OMIM: 615485 - BAINBRIDGE-ROPERS SYNDROME; BRPS Toggle navigation . [PubMed: 23383720, images, related citations] Consult doctors, other trusted medical professionals, and patient organizations. Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes. Code annotations containing back-references to, This is the American ICD-10-CM version of, Codes from this chapter are not for use on maternal records, Congenital absence of bilateral pectoral muscles, Congenital absence of left pectoral muscle, Congenital absence of right pectoral muscle, Congenital contracture of bilateral gastrocnemius, Congenital contracture of gastrocnemius muscle, Congenital contracture of left gastrocnemius, Congenital contracture of left gastrocnemius muscle, Congenital contracture of right gastrocnemius, Congenital contracture of right gastrocnemius muscle, Nail-patella syndrome, hereditary osteoonychodysplasia. (2013) identified a de novo heterozygous 4-bp deletion in the ASXL3 gene resulting in frameshift and premature termination (g.31319343_31319346delACAG, Thr659FsTer41). The 2023 ICD-10-CM files below contain information on the ICD-10-CM updates for FY 2023. 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). [PubMed: 26647312] 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. Please note that NORD provides this information for the benefit of the rare disease community. Many rare diseases have limited information. (2016) reported 3 unrelated patients with BRPS. [Full Text: https://doi.org/10.1093/hmg/ddv499]. This free tool is designed to help billers and coders navigate the new ICD-10-CM code set. Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. 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. Its our mission to change that. Table of Contents. our revenue stream. Gene sequencing is required to confirm a diagnosis of Bainbridge-Ropers Syndrome. National Center for Advancing Translational Sciences. As germline mosaicism has been described, prenatal diagnosis may be considered where the pathogenic variant has previously been identified in a family member. Laurence-moon syndrome is a separate entity. Deciphering Developmental Disorders Study. 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. Select the true statements about Millie and her syndrome. Balasubramanian et al. Check this site often for new trials that become available. Please join your colleagues by making a Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, intellectual disability with poor or absent speech, feeding difficulties, growth failure, specific craniofacial and minor skeletal features. BRS is a list of common traits and symptoms that some people have when their ASXL3 gene has a mutation. ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy. About the ICD-10 Code Lookup. [Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review]. [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. Stay Informed With NORDs Email Newsletter, Launching Registries & Natural History Studies, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome. science writers and biocurators. Affected individuals may also display autistic features. Applicable To Absence of muscle Absence of tendon 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 ). De novo mutations may explain genetic disorders in which an affected child has a mutation in every cell in the body but the parents do not, and there is no family history of the disorder. BRS is a result of an ASXL3 gene mutation, located on chromosome 18. While the OMIM database is open to the public, users seeking information about a personal GENECARDS SUITE PRODUCTS ARE FOR RESEARCH USE ONLY, DO NOT PROVIDE MEDICAL ADVICE AND ARE NOT FOR USE IN DIAGNOSTIC PROCEDURES. ORPHA:352577 Classification level: Disorder Synonym (s): Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Prevalence: <1 / 1 000 000 Inheritance: Not applicable or Autosomal dominant Age of onset: Antenatal, Infancy, Neonatal ICD-10: Q87.0 OMIM: 615485 UMLS: - MeSH: - GARD: - MedDRA: - Summary Epidemiology Over 90% Precursor B-cell acute lymphoblastic leukemia in a pediatric patient with Bainbridge-Ropers syndrome. You must log in or register to reply here. Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. Hum. Read more about what causes ASXL-related 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. Bainbridge-Ropers Syndrome (BRS) - zesp Bainbridge'a-Ropersa. 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. Clinical application of whole-exome sequencing across clinical indications. Short description: Oth congenital malformation syndromes, NEC The 2023 edition of ICD-10-CM Q87.89 became effective on October 1, 2022. Whole-Exome Sequencing Identifies Novel Recurrent Somatic Mutations in Sporadic Parathyroid Adenomas. Quality of life and the functional consequences depends on the severity of the developmental delay and intellectual disability. From this new. Anyone from the U.S. can register with this free program funded by NIH. Two forms have been identified: bardet-biedl syndrome 1 (bbs1) has no linkage to chromosome 16 bardet-biedl syndrome 2 (bbs2) is mapped to markers on chromosome 16. (2013) reported 4 individuals from 4 unrelated families with phenotypic features similar to those of Bohring-Opitz syndrome (605039) but with no specific recognizable syndromic diagnosis. Dziedziczenie Przyczyn zespou mog by mutacje nonsensowne i missensowne genu ASXL3 zlokalizowanego na ramieniu dugim chromosomu 18 (18q12.1). (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. The fourth subject also had anteverted nares but had less severe psychomotor retardation and normal growth. Dotychczas opisano na wiecie kilkanacioro dzieci. Have a good day!! To ensure long-term funding for the OMIM project, we have diversified Background Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. (2017) identified 12 different de novo heterozygous nonsense or frameshift mutations in the ASXL3 gene (see, e.g., 615115.0006 and 615115.0008). 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. 5: 11, 2013. Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S. 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. We hope you find it helpful, and thanks for stopping by! 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. 1900 Crown Colony Drive A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management. 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. Note: Electronic Article. medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. In other cases, the mutation occurs in the fertilized egg shortly after the egg and sperm cells unite. Use ClincalTrials.gov button below to search for studies by disease, terms, or country. 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. Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. You can help Wikipedia by expanding it. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. A (n) chromosome is a long DNA molecule wrapped around proteins and wound tightly. Cause: GARD does not currently have information about the cause of this condition. Med Sci Sports. However, the symptoms can be treated. This is an informational website run by families with information about Bainbridge-Ropers Syndrome. They all have Bainbridge-Ropers syndrome. 0. 140 (2018) 166-170]. 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 . Bainbridge-Ropers Syndrome has not been studied well enough to know what the life expectancy is for someone with Bainbridge-Ropers Syndrome. -the traits caused by Millie's syndrome are Mendelian traits Synonym (s): BOS syndrome Bohring syndrome C-like syndrome Oberklaid-Danks syndrome Opitz trigonocephaly-like syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal dominant Age of onset: Antenatal, Neonatal ICD-10: Q87.8 OMIM: 605039 UMLS: C0796232 MeSH: - GARD: 10140 MedDRA: - Summary Epidemiology