In addition, a varied number of fingers and toes are fused together (syndactyly). We want to hear from you. Visit the group’s website or contact them to learn about the services they offer. Research has identified the affected gene as the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Apert Research. This affects the shape of the head and face. Having a child born with Apert syndrome may feel overwhelming. Get the latest research information from NIH: https://covid19.nih.gov (link is external). Can Apert syndrome be diagnosed through clinical assessment (symptoms) alone or is genetic testing needed to confirm the diagnosis? Causes. Do you have updated information on this disease? In addition, a varied number of fingers and toes are fused together (syndactyly). Apert syndrome is a genetic disorder that affects around 1 in every 65,000 newborn babies. This section provides resources to help you learn about medical research and ways to get involved. It occurs in approximately 1 per 160,000 to 200,000 live births.When you have Apert syndrome, you have a 1 in 2 (50%) chance of passing this condition to your child.This is because each of us … Apert syndrome is caused by a rare mutation on a single gene. GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. Yes, Apert syndrome is inherited to varying degrees in an “autosomal dominant” fashion. This affects how certain cells in the body – including bone cells – grow, divide and die. Do you know of a review article? Warm regards, Molecular genetic testing can help to confirm the diagnosis.[6]. The in-depth resources contain medical and scientific language that may be hard to understand. Causes of Apert Syndrome. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may want to review these resources with a medical professional. You can find more tips in our guide, How to Find a Disease Specialist. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. Rarely, Apert syndrome is inherited in an autosomal dominant fashion. Apert syndrome is a rare genetic disorder that results in a myriad of developmental and neuropsychological deficits for children. https://www.ncbi.nlm.nih.gov/books/NBK1455/, http://ghr.nlm.nih.gov/condition/apert-syndrome, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=87, http://rarediseases.org/rare-diseases/apert-syndrome/, https://medlineplus.gov/ency/article/001581.htm, http://emedicine.medscape.com/article/941723-workup, https://www.ncbi.nlm.nih.gov/books/NBK518993/, https://www.uptodate.com/contents/craniosynostosis-syndromes, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568904/. If you still have questions, please Apert syndrome can be diagnosed based on the presence of the following features: expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, http://ghr.nlm.nih.gov/condition/apert-syndrome, http://rarediseases.org/rare-diseases/apert-syndrome/, https://medlineplus.gov/ency/article/001581.htm, https://www.ncbi.nlm.nih.gov/books/NBK1455/, http://emedicine.medscape.com/article/941723-workup, Turribrachycephalic skull shape (cone-shaped or towering skull) which is visisbly apparent and can be confirmed by skull radiograph or head CT examination, Characteristic facial features including moderate-to-severe underdevelopment of the midface, bulging and wide-set eyes, "beaked" nose, underdeveloped jaw and shallow eye sockets. Use the HPO ID to access more in-depth information about a symptom. Babies with Apert syndrome are born with a distorted shape of the head and face. is updated regularly. The risk of passing the mutation from an affected parent to an offspring is 50% for each pregnancy. We want to hear from you. The syndrome affects how your baby’s head, face, hands and feet look and work.. Apert syndrome is rare. This may be done by removing part of the bone between the eyes (interorbital bone), and repositioning the eye sockets (orbits) closer together for improved appearance. Morphological abnormality of the semicircular canal, Abnormality of cardiovascular system morphology, Percent of people who have these symptoms is not available through HPO, Turribrachycephalic skull shape (cone-shaped or towering skull) which is visisbly apparent and can be confirmed by skull radiograph or head CT examination, Characteristic facial features including moderate-to-severe underdevelopment of the midface, bulging and wide-set eyes, "beaked" nose, underdeveloped jaw and shallow eye sockets. Visit the following Facebook groups related to Apert syndrome: Hohoff A, Joos U, Meye U, Ehmer U, Stamm T. However, having this surgery at this age may result in recurrence, requiring another surgery in late adolescence. The spectrum of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery. We want to hear from you. Related diseases are conditions that have similar signs and symptoms. The mutation arises in FGFR2 gene in newborns leading to the disorder. This mutated gene is normally responsible for guiding bones to join together at the right time during development. It usually appears with no family history of the syndrome, but it can also be inherited from a parent. Do you know of an organization? Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) GARD Information Specialist, If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311. The Center for Complex Craniofacial Disorders at Nationwide Children's expertly treats children with Apert syndrome. These resources provide more information about this condition or associated symptoms. In individuals affected with Apert Syndrome genetics has been found as the main causative factor. For example, it may be recommended before the child enters school (or around 4 to 8 years of age) so as to improve appearance, with the goal of maximizing the psychological well-being of the child. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Do you have more information about symptoms of this disease? Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). Here you can see if Apert Syndrome can be hereditary. It is pronounced Ā-pert. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. pert syndrome is a result of genetic mutation.The syndrome can be inherited from a parent who has Apert’s, or may be a fresh mutation. Who gets Apert syndrome? Do you have any genetic components? Apert syndrome is caused by a mutation in the FGFR2 gene.8 According to the United States National Institutes of Health, "This gene produces a protein called fibroblast growth factor receptor 2. They can direct you to research, resources, and services. About Press Copyright Contact us Creators Advertise Developers Terms Privacy Policy & Safety How YouTube works Test new … Research Portfolio Online Reporting Tool (RePORT), FACES: The National Craniofacial Association, Apert Syndrome and Syndromic Craniosynostosis Awareness Group (ASSC). We hope this information is helpful. This is a lecture about the genetic disease Apert syndrome, intended for trainees and medical professionals. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. How we care for Apert syndrome. To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. People with the same disease may not have Is Apert Syndrome hereditary? Acrocephalo-syndactyly type 1; ACS 1; Syndactylic oxycephaly; Acrocephalo-syndactyly type 1; ACS 1; Syndactylic oxycephaly; Apert-Crouzon disease, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, Human Phenotype Ontology If you do not want your question posted, please let us know. Molecular genetic testing can help to confirm the diagnosis.[5]. How can we make GARD better? This table lists symptoms that people with this disease may have. 27 likes. Usually neither parent has the condition, and the gene mutation has come about by chance. 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