CHOP’s Craniofacial Program is one of the Nation’s leading treatment programs for children with both congenital and acquired anomalies of the face and skull. Children’s Hospital of Philadelphia is a charitable 501(c)(3) nonprofit organization. In most cases, this mutation happens spontaneously – meaning it does not occur as a result of something the mother or father did (or did not do) prior to or during pregnancy. A mutation in a specific part of the FGFR2gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet." Le syndrome d'Apert est une malformation majeure, associant une facio-craniosténose et des syndactylies osseuses et membranaires des quatre extrémités. Apert syndrome is a combined craniofacial deformity with characteristic hand and foot malformations. 3. Its typical characteristic is a premature fusion of the skull bones, which prevents the skull from growing normally leading to … Correction of wide-set eyes (hypertelorism correction). Signs of Apert syndrome include craniosynostosis, midface deficiency, hypertelorbitism and syndactyly. Apert syndrome is a rare genetic form of craniosynostosis — the early closing of one or more of the soft, fibrous seams between the skull bones (sutures). Apert syndrome is a rare genetic disorder that causes abnormal development of the skull. An Apert syndrome also known as Acrocephalosyndactyly syndrome is a genetic disorder that primarily affects the skull bones. 2. In almost all cases, the Apert syndrome gene mutation seems to be random. Apert syndrome also called acrocephalosyndactyly, is a congenital (present at birth) genetic disorder characterized by the premature fusion of certain sutures of the skull bones (craniosynostosis) 1). 3401 Civic Center Blvd. The older a child is before this surgery is performed, the lower the chance for reaching normal intellectual ability. At CHOP we have a comprehensive Craniofacial Program where patients are seen by the following specialties: 4-month-old female with Apert syndrome. Apert syndrome, also called acrocephalosyndactyly, is a genetic syndrome characterized by anomalies of the skull, face and limbs. Apert syndrome is a rare genetic disorder that causes abnormal development of the skull. Decreased growth of the central face can contribute obstructive sleep apnea and airway concerns. Apert (1906) defined a syndrome comprising skull malformation characterized by acrocephaly of brachysphenocephalic type and syndactyly of the hands and feet with complete distal fusion with a tendency to fusion of bony structures. Note tall shape and characteristic flatness of the back of the head. The condition also leads to the fusion of fingers and toe also known as syndactyly. The characteristic feature that distinguishes Apert syndrome from other types of syndromic craniosynostosis is the presence of hand anomalies, most commonly fused or webbed fingers (syndactyly). Babies with Apert syndrome are born with a distorted shape of the head and face. A surgeon removes a wedge of bone in the skull between the eyes. Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones. In addition to affecting the child’s skull, this genetic disorder can also affect the shape of the hands and feet. The brain continues to grow inside the abnormal skull, putting pressure on the bones in the skull and face. In general, children who are raised by their parents have a better chance of achieving normal intellectual ability. A surgeon cuts the bones in the jaw and cheeks and brings them forward into a more normal position. Plastic and Reconstructive Surgery, 2008; vol 124: pp 2054-2060. eMedicine: "Apert Syndrome." This results in a skull shape with increased vertical height. Les perspectives à long terme pour les personnes atteintes du syndrome d'Apert s'améliorent avec les progrès de la médecine moderne. At CHOP, our experienced Craniofacial Surgeons will help guide your child through craniosynostosis repair and other surgeries to address symptoms related to airway, dental/jaw relationships and craniofacial relations. Because of the complex issues that can be associated with Apert syndrome, your child should be treated at a medical center where she will have access to pediatric specialists across the many clinical areas she may need. Life expectancy is likely improving because of advances in surgical techniques and follow-up care. Due to the premature fusion, the growth, shape and size of the cranium get affected. Apert syndrome has no known cure. Apert syndrome can be passed down through families (inherited) as an autosomal dominant trait. SOURCES: van der Vlugt, J. It is pronounced Ā-pert. Surgery to correct the abnormal connections between bones is the main treatment for Apert syndrome. Other surgeries may be beneficial for certain children with Apert syndrome, depending on their individual pattern of facial bone formation problems. Apert syndrome is caused by one of two changes to the FGFR2 gene. However, pe… Some children with Apert syndrome also have heart, gastrointestinal, or urinary system problems. Those with Apert syndrome who survive past childhood and don't have heart problems likely have a normal or near-normal life expectancy. It is a complex condition that is caused by early closure or premature fusion of the skull bones. It is characterized by craniosynostosis, exorbitism, midface hypoplasia, and symmetric syndactyly of the hands and feet. Additional corrective surgery may be needed, especially when midface advancement is done at a young age. Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder characterized by deformities of the skull, face and limbs. About four in 10 children with Apert syndrome who are raised in a healthy family environment reach a normal intelligence quotient (IQ). Plastic surgeons: craniofacial and hand surgeons, Otolaryngologists (ear, nose and throat specialists), Advanced Practice Providers – NPs and PAs, ©2021 The Children’s Hospital of Philadelphia. This means that only one parent needs to pass on the faulty gene for a child to have the condition. Infants with Apert syndrome are born with cranial and facial deformities. Apert syndrome is a genetic disorder characterized by skeletal abnormalities. WebMD does not provide medical advice, diagnosis or treatment. The condition of Apert syndrome arises due to a genetic disorder which leads to the premature fusion of cranial bones in the skull. Babies with Apert syndrome are born with a distorted shape of the head and face. Apert syndrome is a genetic condition caused by a mutation in a specific gene. The surgeon brings the eye sockets closer together, and may adjust the jaw, too. Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones. It is thought to occur in around 1 in 65,000 live births. Children with Apert syndrome and other similar conditions who have normal IQs do not seem to have an increased risk of behavioral or emotional problems. A surgeon separates the abnormally fused skull bones and partially rearranges some of them. Other body parts and organs are also affected. Le système longitudinal (sutures métopique et sagittale) est anormalement large, même durant les premiers mois de vie. The syndrome of Apert or Acrocephalosyndactyly type I (ACS1), is a pathology of genetic origin that is characterized by the presence of different alterations and malformations in the skull, face and limbs (Boston Children’s Hospital, 2016). Craniosynostosis: early closure of one or more of the seams between the skull bones causing an abnormal skull. Referral to a specialized hand surgeon with expertise in treating and repairing hand deformities is an important element of care for children with Apert syndrome. Apert syndrome is a very rare type of syndromic (or complex) craniosynostosis named after the French doctor, Eugene Apert, who first described it in the early 20th century. The bones of the skull fuse prematurely, causing the appearance of a sunken face, wide-set eyes, and beaked nose. This surgery may be done at any time between ages 4 and 12. The Hand and Arm Disorders Program at CHOP is the region’s largest multidisciplinary center treating children with congenital deformities of the hand. This is called craniosynostosis. Among Apert syndrome children who are institutionalized, only about one in 18 achieves a normal IQ. Experts are unsure why the same gene mutation can result in such variation in a child's Apert syndrome prognosis. Also known as Acrocephalosyndactyly Type I, Apert syndrome is a rare genetic disorder that causes early and abnormal fusion of bones, especially in the head, hands, and feet. Apert syndrome is a genetic condition that affects the skull, face, hands and feet. It is one of a group of craniosynostosis syndromes (prematurely fused skull bones) termed “acrocephalosyndactyly.” A known genetic link exists, and it can be passed on from generation to generation. Cohen, M. American Journal of Diseases of Children, 1993; vol 147: pp 989-993. Son incidence est de 1 naissance sur 50 000. Characteristics include: Skull - short from back to front, wide on the sides, and overly tall (craniosynostosis) Eyes - slightly side-spaced, bulging, the eyelids tilt downward abnormally at the sides. Apert syndrome is a genetic disorder characterized by premature fusing of the bones in the skull and by fusing of the fingers and toes. Smart Grocery Shopping When You Have Diabetes, Surprising Things You Didn't Know About Dogs and Cats, Coronavirus in Context: Interviews With Experts, Sign Up to Receive Our Free Coroanvirus Newsletter, Developmental Delays in Children Ages 3-5, A head that is long, with a high forehead, Poor intellectual development (in some children with Apert syndrome), Crowded teeth due to underdevelopment of the jaw. Apert Syndrome is a genetic defect and falls under the broad classification ofcraniofacial/limb anomalies. As the child with Apert syndrome grows, the facial bones again become misaligned. This surgery is usually performed when a child is between ages 6 and 8 months. This can occur in … Apert syndrome is a rare craniofacial disorder that results from a mutation in a single gene passed on to a developing fetus. The defective gene in babies with Apert syndrome allows the skull bones to fuse together prematurely, a process called craniosynostosis. Apert syndrome. Complex syndactyly, when fingers are webbed together, benefit from specialty surgical care to release and result in the greatest degree of function that can be achieved. In addition, upper or lower jaw remains underdeveloped, leading to crowding of the teeth and other dental issues. Apert syndrome is a rare condition, usually evident at birth, that causes an abnormally shaped skull and fused fingers and toes. Additionally, our Craniofacial Team maintains close collaboration with Genetics, Ophthalmology, Speech, Otolaryngology (ENT), Audiology and Neurosurgery to help provide comprehensive craniofacial care. This causes a crescent moon or sunken facial appearance with depressed nasal bridge and beak nose. Watch our educational video to learn more about the services and treatment options CHOP offers to children with craniofacial conditions such as Apert syndrome. Listen. Apert syndrome is caused by a rare mutation on a single gene. Other birth defects may be present as well. Apert syndrome is a rare genetic condition that is apparent at birth. Even with early surgery, certain brain structures may remain poorly developed, however. Apert syndrome is a birth abnormality caused by a mutation of the FGFR2 gene. Apert syndrome, also called acrocephalosyndactyly, is a genetic syndrome characterized by anomalies of the skull, face and limbs. Individuals with Apert syndrome typically have the following conditions: Other common characteristics include large elongated forehead, shallow eye sockets causing prominent eyes, narrow palate with or without a cleft, fused bones in the arms, elbows and hips, and hearing loss. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch , the precursor of the maxilla and mandible . Apert syndrome is primarily characterized by specific malformationsof the skull, midface, hands, and feet. Infants born with this condition have a distorted shape of skull and face. Apert syndrome is rare. Midface hypoplasia: decreased growth of the midface. La craniosynostose, visible dès la naissance, est toujours bicoronale. Apert Syndrome is a condition involving distortions of the head and face and webbing of the hands and feet. 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. In addition, a varied number of fingers and toes are fused together (syndactyly). Apert syndrome is a type of complex craniosynostosis named after the doctor who first described it in the early 20th century. The syndrome affects how your baby’s head, face, hands and feet look and work. This can cause the top of the head to appear pointed and can affect facial bones. There can be wide variability between children with Apert syndrome, with some severely affected, and others only mildly affected. Also known as acrocephalosyndactyly, this condition is relatively rare, and there are treatments available to normalize the patient's appearance and reduce the risk of developing secondary complications. He recognised a specific number of differences with children and realised there was a link with these differences. Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. At Children’s Hospital of Philadelphia, coordinated care of patients with Apert syndrome is typically managed through the Craniofacial Program. Doctors often suspect Apert syndrome or another craniosynostosis syndrome at birth because of a newborn's appearance. Certain … All rights reserved. Surgery and other treatments can increase the chance of a child with Apert syndrome developing normally. WHAT IS APERT SYNDROME? Some cases may occur without a known family history. Eyes that appear wide set and have a bulging appearance are also a characteristic of this syndrome. Life expectancy also varies between children with Apert syndrome. The hand, when all the fingers are webbed, has been compared to a spoon and, when the thumb is free, to an obstetric hand. Syndactyly: fusion of the fingers and toes. The abnormal skull and facial growth in Apert syndrome produce its main signs and symptoms: Other Apert syndrome symptoms also result from the abnormal skull growth: Abnormal fusion of the bones of the hands and feet (syndactyly) -- with webbed or mitten-like hands or feet -- are also common Apert syndrome symptoms. © 2005 - 2021 WebMD LLC. It can be inherited from a parent who has Apert, ormay be a fresh mutation. This gene defect causes some of the bony sutures of the skull to … Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Apert syndrome can occur between 1 out of every 60,000 to 80,000 births. Apert syndrome may include: Families also benefit from specialized programs such as CHOP’s Center for Pediatric Airway Disorders and the Division of Pulmonary and Sleep Medicine to address breathing issues, as well as the Pediatric Feeding and Swallowing Center to manage feeding issues. Only about one in 65,000 babies is born with Apert syndrome. It occurs in approximately 1 per 160,000 to 200,000live births. Patients with Apert syndrome can have related health and developmental issues, reinforcing the need for coordinated, multidisciplinary care and access to a variety of pediatric subspecialists. Apert syndrome is a rare, genetic condition in which the joints in a newborn baby’s skull close too early. This page from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Apert syndrome.The skull is made up of several ‘plates’ of bone which, when we are born, are not tightly … Apert syndrome is characterized by fusion of the skull bones too early … Midface advancement. The hand can resemble a spade, mitten or rosebud. Apert syndrome is characterized by craniosynostosis, a condition in which the fibrous joints (sutures) between bones of the skull close prematurely. Children with Apert syndrome usually require surgery for release of the skull bones to allow a chance for the brain to develop normally. 6-month-old male with Apert syndrome. Apert syndrome affects the shape of a baby’s face and occurs when bones in the skull fuse together prematurely. If you've ever held a newborn, you have probably been told to watch the 'soft spot' on their head. In one study, three of 136 children with Apert syndrome eventually attended college. Babies with Apert syndrome are born with a distorted shape of the head and face. Children with Apert syndrome with lower IQs often do have behavioral and emotional problems. Surgical tracheostomy, or placement of a breathing tube in the neck; this surgery may be done for children with severe, Surgical placement of ear tubes (myringotomy), for children with repeated. Apert syndrome is a rare genetic disorder that causes abnormal development of the skull. Apert syndrome is a birth defect in which the babies are born with distorted face and head, along with webbed toes and fingers. This early fusion prevents the skull from growing normally and affects the shape of the head and face. However, they may require additional social and emotional support to help cope with their condition. Learn about the diagnosis and treatment of craniofacial conditions, including craniosynostosis, hemifacial microsomia, and other syndromes. The Center for Complex Craniofacial Disorders at Nationwide Children's expertly treats children with Apert syndrome. Although Tessier noted multiple additional characteristics of patients with Apert syndrome, syndactyly essentially differentiates it from Crouzon's syndrome. People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet. Note the retruded brow and flattened forehead as well as sunken appearance of the face from the middle of the eyes to the upper jaw. 3-minute read. This early fusion prevents the skull from growing normally and affects the shape of the head and face. Apert syndrome is a genetic anomaly that occurs at the embryonic stage. Philadelphia, PA 19104. Children with Apert Syndrome benefit from routine psychosocial support to address any behavioral, developmental, academic, emotional or social difficulties associated with their condition, appearance differences, and surgical treatments throughout childhood. Apert syndrome is the disease in which the abnormal development of the skull occurs due to a genetic disorder. Le syndrome d'Apert n'a souvent aucune incidence sur l'espérance de vie d'une personne, bien que des problèmes cardiaques ou d'autres affections connexes puissent entraîner des complications. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This mutated gene is normally responsible for guiding bones to join together at the right time during development. Reviewed by Scott P. Bartlett, MD, Jesse A. Taylor, MD. Fusion of fingertips forming a concave palm, Tight fusion of all digits with one conjoined nail. What is Apert syndrome? Genetic testing can usually identify Apert syndrome or another cause of abnormal skull formation. Wilkie, A. American Journal of Medical Genetics, 2007; vol 143A: pp 1941-1949. Eyedrops during the day, with lubricating eye ointment at night; these drops can prevent the dangerous eye drying that can occur in Apert syndrome. Release of skull bone fusion (craniosynostosis release). As well as the skull and face, the hands and feet are also affected. Apert Syndrome. Apert syndrome is a rare inherited condition marked by abnormal shape of the face and skull due to premature fusion of the bones, and webbing of hands and feet. In general, surgery for Apert syndrome takes place in three steps: 1. Apert syndrome has no cure, but surgery can help correct some of the problems that result. The treatment of Apert syndrome is dependent upon both functional and appearance-related needs, and should be addressed immediately after your child is born. Apert syndrome (acrocephalosyndactyly) is transmitted by an autosomal dominant mode of inheritance. Many children with Apert syndrome also have other birth defects. 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