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. A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major. Validation of the lithuanian version of the self-evaluation of negative symptoms scale (SNS). 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. 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 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. Bristol Rabbit Pain Scale (BRPS): clinical utility, validity and reliability. our revenue stream. Bainbridge-Ropers syndrome - About the Disease - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About GARD Contact Us We recently launched the new GARD website and are still developing specific pages. Stay Informed With NORDs Email Newsletter, Launching Registries & Natural History Studies, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome. Enroll in databases to allow researchers from participating institutions to find you. Molec. Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in ASXL3 gene. for Bainbridge-Ropers Syndrome, Severe Feeding Difficulties-Failure to Thrive-Microcephaly Due to Asxl3 Deficiency Syndrome, Causative germline mutation (loss of function). Bainbridge-Ropers syndrome is a very rare genetic disorder characterized by abnormalities including more Search Currently GARD aims to provide the following information for this disease: Population Estimate: This section is currently in development. A few patients had nonspecific minor abnormalities on brain imaging. Genet. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Experts Stephanie Bielas, PhD (University of Michigan) and Wendy Chung, MD, PhD (Columbia University) provide a research and clinical overview of Bainbridge-Ropers Syndrome for families. It was identified in fourteen males from one family in 1993. The mutation happens randomly and is not usually inherited from parents. GENECARDS SUITE PRODUCTS ARE FOR RESEARCH USE ONLY, DO NOT PROVIDE MEDICAL ADVICE AND ARE NOT FOR USE IN DIAGNOSTIC PROCEDURES. ASXL3 is one of approximately 20,000-25,000 genes that . Hum. (2013) identified different de novo nonsense and frameshift mutations in the ASXL3 gene in each of the 4 patients (615115.0001-615115.0004). UniProtKB/Swiss-Prot: 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. 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. The core mission of Leo's Lighthouse is to find an effective therapy, and eventually a cure, for Bainbridge-Ropers Syndrome (BRS). Joint laxity and ulnar deviation of wrists are also frequently observed. Updating ICD-10 Codes . I would love to see what help anyone can provide. De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. This by far is I find is one of the hardest things I have tried to find correct code for. Skeletal abnormalities, such as a "barrel chest", extremely high arched palate, This page was last edited on 13 February 2023, at 07:14. Affected individuals may also display autistic features. Q79.8 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. They all have Bainbridge-Ropers syndrome. To ensure long-term funding for the OMIM project, we have diversified 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 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. Suite 310 Gene sequencing is required to confirm a diagnosis of Bainbridge-Ropers Syndrome. NIH Clinical Center Table of Contents. 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. ICD-10 Games Learn codes with classic games like Flashcards and Hangman. #1. We are determined to keep this website freely 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. 54: 537-543, 2017. 4. 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. This article about a disease, disorder, or medical condition is a stub. Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. 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 ). (2017) identified 12 different de novo heterozygous nonsense or frameshift mutations in the ASXL3 gene (see, e.g., 615115.0006 and 615115.0008). Genome Med. Use ClincalTrials.gov button below to search for studies by disease, terms, or country. The authors noted that the mutations reported by Bainbridge et al. Phone: 203-263-9938 Orphanet doesn't provide personalised answers. For all other comments, please send your remarks via contact us. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 04/10/2018 Edit History: joanna : 08/20/2021 joanna : 08/20/2021 joanna : 05/11/2018 ckniffin : 04/11/2018 . 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. There has been limited research on Bainbridge-Ropers Syndrome and the other two ASXL syndromes (ASXL1/Bohring-Opitz Syndrome and ASXL2/Shashi-Pena 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. It is also important to counsel affected families about the possibility of recurrence due to germline mosaicism. 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. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. Other frequent gastrointestinal features include gastroesophageal reflux and constipation. Phone: 617-249-7300, Danbury, CT office Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. J. Med. accessible. -the traits caused by Millie's syndrome are Mendelian traits 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. Three patients had a marfanoid habitus with arachnodactyly, tall stature, pes planus, and scoliosis. Learn about symptoms, cause, support, and research for a rare disease. Signs and symptoms [ edit] Morphological features of this syndrome include: [1] Arched eyebrows Anteverted nares 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. Healthy volunteers may also participate to help others and to contribute to moving science forward. About the ICD-10 Code Lookup. They build public awareness of the disease and are a driving force behind research to improve patients' lives. [Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review]. Key role The ASXL3 gene plays a key role in development of the brain and the body. Resource(s) for Medical Professionals and Scientists on This Disease: This information is currently in development. Washington, DC 20036 In other cases, the mutation occurs in the fertilized egg shortly after the egg and sperm cells unite. It affects parts of the body including the spinal cord, liver, kidneys, and bone marrow. Box 4662Portland, ME [email protected], We are recognized in the United States as a 501(c)3 nonprofit organization. donation now and again in the future. Changing lives of those with rare disease. [PubMed: 23383720, images, related citations] Consult doctors, other trusted medical professionals, and patient organizations. This is the American ICD-10-CM version of Q79.8 - other international versions of ICD-10 Q79.8 may differ. Less than 100 cases have been reported in literature and databases to date. JavaScript is disabled. Decoding the byssus fabrication by spatiotemporal secretome analysis of scallop foot. This region lies between the N-terminal protein scaffolding functional domains of the gene and the C-terminal chromatin/DNA-targeting functional domain. and by advanced students in science and medicine. [A case of Bainbridge-Ropers syndrome with autism in conjunct with ASXL3 gene variant and its clinical analysis]. #615485 Joint laxity and ulnar deviation of wrists are also frequently observed. Patient organizations can help patients and families connect. ICD-10-CM Diagnosis Code S14.147D ; Search Results. ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy. Were funding research grants and we support the ASXL Patient Registry and Biobank. From this new. J. Med. OMIM: [PubMed: 26647312, related citations] Patients may exhibited skeletal anomalies including scoliotic attitude, joint laxity, pectus excavatum or carinatum and ulnar deviation of wrists. Unfortunately, it is not free to produce. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. H02382 Bainbridge-Ropers syndrome Human diseases in ICD-11 classification [BR:br08403] 20 Developmental anomalies Multiple developmental anomalies or syndromes . Among their cohort, Balasubramanian et al. ASXL3/Bainbridge-Ropers Syndrome For more information, visit GARD. He was diagnosed with Bainbridge-Ropers syndrome (BRS), a rare genetic motor planning disorder. 54: 537-543, 2017. A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands. Genet. (2013) identified a de novo heterozygous 4-bp deletion in the ASXL3 gene resulting in frameshift and premature termination (g.31319343_31319346delACAG, Thr659FsTer41). 25: 597-608, 2016. (2013) clustered mainly within the 5-prime end of exon 11 between codons 404 and 659. Please join your colleagues by making a 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. Suite 500 Diagnosis is based on presentation of clinical features, and can be confirmed by genetic testing. De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. Case presentation We describe an 11-year old boy . Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. 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. Copyright 2023 NORD National Organization for Rare Disorders, Inc. All rights reserved. NORD is a registered 501(c)(3) charity organization. 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 . While the OMIM database is open to the public, users seeking information about a personal Her brother, Archer, wanted to. 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. Associated manifestations should also be coded. You are using an out of date browser. View CNBC interview with NORDs Peter Saltonstall and Boston Childrens Dr. Olaf Bodamer emphasizing the importance of investment in rare diseases. Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes. A gene is a set of biochemical instructions that tell a cell how to manufacture a protein. If this is your first visit, be sure to check out the. March 14, 2018 Autism, Autism Spectrum Disorder, Bainbridge-Ropers Syndrome, Dr. Robin Kochel, Genetics, Nicole Blanton, SPARK for autism. Laurence-moon syndrome is a separate entity. I would love to see what help anyone can provide. The two best things you can do to advance research into Bainbridge-Ropers Syndrome are, participate in the registry and biobank and. 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. [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. Applicable To Absence of muscle Absence of tendon Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate. 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). The 2022 ICD-10-CM files below contain information on the ICD-10-CM updates for FY 2022. Most patients presented in early infancy with feeding difficulties, poor overall growth, relative microcephaly, and hypotonia. Deciphering Developmental Disorders Study. 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. Bainbridge-Ropers Syndrome is caused by a de novo (new) mutation of the ASXL3 gene. 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. (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. For example, X98.6 (ICD-10 code) will become 0X98.60. Breath-holding spells with choreathetoid movements have been previously described. Balasubramanian et al. For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News National Organization for Rare Disorders (NORD) 1900 Crown Colony Drive Suite 310 Quincy, MA 02169 Phone: 617-249-7300 Other Locations: Danbury, CT office 55 Kenosia Avenue News. Learn about the new and revised codes for fiscal year (FY) 2023, effective October 1, 2022. There were no phenotypic differences between patients with mutations in the different cluster regions. Differential diagnosis includes other syndromes with moderate-severe intellectual disability and poor language. 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. 3. [PubMed: 28100473, related citations] Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes. The Human Gene Mutation Database (HGMD): optimizing its use in a clinical diagnostic or research setting. Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. Disease Ontology: Read more about what causes ASXL-related disorders ASXL3-related syndrome is also known as Bainbridge-Ropers syndrome or BRPS. 58 Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. [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. Thank you, I will keep looking back for responses. Case report : a novel ASXL3 gene variant in a Sudanese boy. There are two main types of clinical studies: People participate in clinical trials for a variety of reasons. Short description: Oth congenital malformation syndromes, NEC The 2023 edition of ICD-10-CM Q87.89 became effective on October 1, 2022. Functional studies of the variants and studies of patient cells were not performed, but all were predicted to result in a loss of function. Currently GARD aims to provide the following information for this disease: This section is currently in development. Genet. Copyright 1996-2023 , Weizmann Institute of Science. This free tool is designed to help billers and coders navigate the new ICD-10-CM code set. Treatment of Self-Injury in Bainbridge-Ropers Syndrome: Replication and Extensions of Behavioral Assessments. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype Am J Med Genet A. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. This by far is I find is one of the hardest things I have tried to find correct code for. Note, GARD cannot enroll individuals in clinical studies. Danbury, CT 06810 Rozpowszechnienie: nieznane. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Bainbridge-Ropers Syndrome has not been studied well enough to know what the life expectancy is for someone with Bainbridge-Ropers Syndrome. Quincy, MA 02169 BRS is a result of an ASXL3 gene mutation, located on chromosome 18. About ASXL3/Bainbridge-Ropers Syndrome (BRS) Overview About Bainbridge-Ropers Syndrome is caused by a de novo (new) mutation of the ASXL3 gene. Bainbridge Roper Syndrome is a rare genetic syndrome associated with a mutation in the ASXL3 gene. 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). BAP1/ASXL1 recruitment and activation for H2A deubiquitination. [2], Diagnosis can only be made by genetic testing. A (n) chromosome is a long DNA molecule wrapped around proteins and wound tightly. MalaCards based summary: Clinical studies are medical research involving people as participants. 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 ). All had delayed psychomotor development with moderate to profound intellectual disability and delayed walking. 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.