The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. However, confirmation is done through blood testing for the gene that causes it. Luckily, early surgery for this disease has an excellent prognosis. Other characteristics and conditions that may occur in people with Apert syndrome include: Apert syndrome is caused by a mutation in the FGFR2 gene. According to the United States National Institutes of Health, "This gene produces a protein called fibroblast growth factor receptor 2. Previous Post: What Happens To Your Body When You Get Hypothermia? Apert’s syndrome is a clinically distinct human condition characterized by craniosynostosis (premature fusion of cranial sutures), craniofacial anomalies, and symmetric syndactyly of hands and feet, with cutaneous and bony fusions.1, 2, 3 Associated clinical findings include skeletal abnormalities as well as deformities of the temporal bone, eyes, cranial base, and cervical spine. In some instances, features of Apert syndrome may be detected before birth. Ask The Nurse Expert – | Copyright 2007 – 2018 Treatment of the hands and feet in Apert syndrome: an evolution in management. An infant with a craniosynostosis syndrome should be seen immediately after birth by a nurse from the Center for Craniofacial Anomalies to make sure the infant can adequately breathe and feed. Most people who have Apert syndrome are diagnosed either at birth or before birth. To illustrate how Apert syndrome, a rare autosomal dominant genetic syndrome, can be detected in the second‐trimester of pregnancy using 2D ultrasound, and how 3D ultrasound … CONCLUSION: Apert syndrome can be accurately suspected in the second-trimester by careful ultrasound examination of the fetus including the extremities and skull shape. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. The syndrome is inherited as an autosomal dominant trait, which means that only one parent needs to pass on the faulty gene for a child to have the condition. How to Lower Glucose Levels – Different Ways for Different Needs. 5 An association between this condition and a high parental age has been suggested. It is often identified on ultrasound due to the abnormally developing skull bones. Apert syndrome is primarily characterized by a fusion of the skull bones that … Most people who have Apert syndrome are diagnosed either at birth or before birth… Interesting Facts About Apert Syndrome The infant suffering from apert syndrome also suffers from heart, gastrointestinal and urinary problems. A mutation that may be responsible for Crouzon's syndrome has been localized of the FGFR2 gene; however up to one third of the cases occur spontaneously. This may happen as part of a syndrome (collection of symptoms often seen together), and so may be referred to as ‘syndromic’ as well. If clinically indicated, clinicians can choose to include these genes at no additional charge. Shortly after being discharged from the hospital, the child should be seen for a full team evaluation at the center. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible.Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects. CONCLUSION: Apert syndrome can be accurately suspected in the second-trimester by careful ultrasound examination of the fetus including the extremities and skull shape. Apert syndrome diagnosis. The range of developmental delay and intellectual disability varies greatly—it can be anywhere from normal to moderate. Eur J Hum Genet. The more resources you are able to find and plug into, the more comfortable you will feel. The specific interventions necessary will depend on the individual and how they are affected. Sudan J Paediatr. Apert syndrome can usually be diagnosed at birth by looking at your infant’s skull and face. It is due to gain-of-function missense mutations of fibroblast growth factor receptor (FGFR2)-2 on chromosome 10q. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet.". Eur J Hum Genet. Apert syndrome is usually diagnosed at or soon after birth… DISCUSSION. Is there a correlations between hypertension and high cholesterol? Apert's Syndrome . This may be performed through amniocentesis while mom is still pregnant if Apert syndrome is suspected. Kheir AE, Hamed AA, Maki WM, Hasan LH. Doctors may suspect Apert syndrome before birth due to abnormal development of the skull.9 The official diagnosis is made through genetic testing, which is done by a blood test. Among its multiple functions, the FGFR2 protein plays a key role in development before birth by signaling immature cells to become bone cells. A baby with Apert syndrome may develop vision, hearing, breathing, learning, and growth problems. Apert syndrome is a genetic condition that affects an estimated one in 65,000 to 88,000 newborns each year. Common traits in people with Apert syndrome include prematurely fused bones of the skull, fusion of some fingers and toes, among others. Look for craniofacial centers near you as well. Jain K, Singh M. Midline Cleft of Lip With Preaxial Polydactyly in One Hand: A Possible New Variation of Thurston Syndrome?. Treatment timing and multidisciplinary approach in Apert syndrome. If you or someone you know is expecting a baby with Apert syndrome or you are just looking to learn a little more about this condition, it is always helpful to equip yourself with the knowledge of the symptoms, causes, diagnosis, treatment, and coping. (n.d.). We report a case of Apert syndrome detected on prenatal ultrasound. Chances of occurrence of Apert syndrome. Kristina Duda, BSN, RN, CPN, has been working in healthcare since 2002. Wenger TL, Hing AV, Evans KN. Although the diagnosis may seem overwhelming and frightening at first, you may learn that it is more manageable than you initially anticipated. Anantheswar YN, Venkataramana NK. Molecular analysis of fetal DNA can be used in Apert, Crouzon, Pfeiffer and Jackson–Weiss syndromes 15 - 22 when the family history is … Prenatal diagnosis relies mainly on the association of skull deformity and associated abnormalities that mainly apply to the diagnosis of Apert's syndrome with syndactyly 10-18. Ann Stomatol (Roma). 2014;14(2):71-5. After birth, CT scans or MRI can further confirm the diagnosis. The risk of a second child being affected is 1%. Apert Syndrome. Apert Syndrome Before And After Surgery For more details, see our Privacy Policy. Babies with Apert syndrome have certain skull bones that fuse together prematurely in utero (before birth) causing a condition known as craniosynostosis. This early fusion prevents the skull from growing like it should and affects the shape of the head and face. Add-on 3MC and Treacher-Collins Syndrome Genes. Plast Reconstr Surg. 2017;140(4):587e-597e. Ⓒ 2021 About, Inc. (Dotdash) — All rights reserved, Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Apert syndrome can be passed down through families (inherited). Steve Debenport / … The first case of Apert syndrome was reported exactly 100 years ago in the Bulletin of the Medical Society of Paris. It can also lead to complications like breathing problems and slower learning. Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. sources: Healthline, Genetics Home Reference, National Organization of Rare Disorders Treatment: Apert syndrome is a birth defect causing distorted head and face and hence cannot be treated. Fused cranial joints in an ultrasound, though not 100% conclusive, is a strong indicator or sign of Apert syndrome. Apert Syndrome Causes Common facial features in people with Apert syndrome include: Because the early fusion of the skull can cause problems for the developing brain, people with Apert syndrome may have cognitive disabilities as well. J Pediatr Neurosci. GeneReviews® [Internet]. Plast Reconstr Surg. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. What Happens To Your Body When You Get Hypothermia? Craniosynostosis is a prominent feature in 3MC syndrome (MASP1) and Treacher Collins syndrome (TCOF1). Craniosynostosis. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome, Apert Syndrome: Late presentation and treatment challenges, Treatment timing and multidisciplinary approach in Apert syndrome, Pediatric craniofacial surgery for craniosynostosis: Our experience and current concepts: Parts -2, Dental approach for Apert syndrome in children: a systematic review, Treatment of the hands and feet in Apert syndrome: an evolution in management, Impact of a Cleft and Craniofacial Center on an Academic Health System, Syndactyly (a minimum of three fingers on each hand and foot that may be webbed or fused), Polydactyly (less common, but there may be extra digits on the hands or feet), Cryptorchidism (failure of testes to descend into the scrotal sac), Enlargement of kidneys due to blockage in the flow of urine, Frontal-orbital advancement (to increase space in the forehead and eye sockets), Facial bi-partition to widen the upper jaw, Osteotomy (expansion of upper and lower jaws), Rhinoplasty (plastic surgery of the nose), Genioplasty (plastic surgery of the chin or cheeks), Cardiac surgery for congenital heart defects. This would be done through prenatal 2D or 3D ultrasound or magnetic resonance imaging (MRI). This can … Although it is possible, such prenatal diagnosis is not common. Having a child with special needs can be overwhelming for any parent. López-estudillo AS, Rosales-bérber MA, Ruiz-rodríguez S, Pozos-guillén A, Noyola-frías MÁ, Garrocho-rangel A. CONCLUSION: Apert syndrome can be accurately suspected in the second-trimester by careful ultrasound examination of the fetus including the extremities and skull shape. Gather information from credible sources and talk to other parents if possible. It is classified as a branchial arch syndrome, … However, regular pre-natal tests do not screen for Apert syndrome. In rare cases, syndactyly is associated with other genetic abnormalities and syndromes, including Poland syndrome, Apert syndrome and Carpenter syndrome. If your baby receives a prenatal diagnosis of Apert syndrome, be sure to talk to your physician about what to expect. Testing and diagnosis Sometimes, syndactyly can be diagnosed before birth during an ultrasound, though it is usually identified after birth. After birth, CT scans or MRI can … Pourtaheri N, Kearney A, Wan DC, Lakin GE. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Testing Resources. Brackenrich J, Fagg C. Hyperhidrosis. 2003;112(1):1-12. This may be performed through amniocentesis while mom is still pregnant if Apert syndrome is suspected. Apert syndrome can be inherited, and is transmitted in what geneticists call an “autosomal dominant pattern.” This means that when a child grows up with Apert syndrome and chooses to have children, there is a 50:50 chance that the Apert trait will be passed on for each birth. Apert syndrome is a rare disease and is estimated to occur in 1 in 65,000 to 200,000 births depending on the study cited. Seattle (WA): University of Washington, Seattle; 1993-2019. Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. The early fusion of the skull causes the head to be cone-shaped (acrocephaly). A baby with Apert syndrome may develop vision, hearing, breathing, learning, and growth problems. Apert syndrome is an autosomal dominant inherited craniosynostosis syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2 (FGFR2). A case study of a thirty-four-year-old, pregnant woman who gave birth to a child with Apert syndrome showed some signs that help detect the disease before birth. Other sutures may also be affected either from birth or later. How are some ways YOU can tell if you have Type 1 Diabetes? Mere physical examination of the newborn child is enough to detect Apert syndrome. Fetal MRI, however, can provide much more detail about the brain than ultrasound. Impact of a Cleft and Craniofacial Center on an Academic Health System. Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.Nearly all cases of this condition result from new (de … Apert's syndrome is an autosomal dominant disorder but, in many cases, the inheritance is sporadic. Sometimes, Apert syndrome is diagnosed during pregnancy. It is characterized by craniosynostosis, exorbitism, midface hypoplasia, and symmetric syndactyly of the hands and feet. ... although it may not be detected until months or years later. Diagnostic tests for Down's syndrome. A case study of a thirty-four-year-old, pregnant woman who gave birth to a child with Apert syndrome showed some signs that help detect the disease before birth… Apert syndrome (acrocephalosyndactyly) is transmitted by an autosomal dominant mode of inheritance. Apert Syndrome Adults Apert syndrome: A case report and review of the literature. However, people with Apert syndrome can pass the genes on to their children. Apert syndrome can be detected prior to birth through the techniques of fetal ultrasound, fetoscopy, and DNA molecular analysis.