Babies with Apert syndrome have certain skull bones that fuse together prematurely in utero (before birth) causing a condition known as craniosynostosis.2 This early fusion prevents the skull from growing like it should and affects the shape of the head and face. Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly (cutaneous and bony fusion) of … Apert syndrome shows autosomal dominant heritance, but nearly all cases result from new gene mutations. Apert syndrome is a type of complex craniosynostosis named after the doctor who first described it in the early 20th century. Apert syndrome is a congenital disorder characterized primarily by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet with a tendency to fusion of bony structures. Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Close phenotypic mimics are Crouzon syndrome and Pfeiffer syndrome, both of which are also caused by mutations in FGFR2. Figure 115C Apert syndrome is a genetic disorder characterized by skeletal abnormalities. Check for errors and try again. ADVERTISEMENT: Radiopaedia is free thanks to our supporters and advertisers. Radiograph of the left hand (Fig. Prenatal diagnosis of Apert syndrome: report of two cases. Our expert, multidisciplinary team of surgeons has extensive experience treating the full range of conditions related to Apert syndrome. Apert syndrome may be diagnosed prenatally and presents clinically at birth. Entezami M, Albig M, Knoll U et-al. Introduction: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutations in genes encoding fibroblast growth factor receptor 2 (FGFR2). People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet. Apert Syndrome is a genetic condition resulting from a mutation in gene FGRF2 – fibroblast growth factor receptor 2 – on chromosome 10. It is characterized by multisuture craniosynostosis, midfacial hypoplasia, abnormal skull base development and … Collapse Section. Apert syndrome is a rare genetic disorder that causes a fetus’ facial and skull bones to fuse together too early in its development. Apert syndrome is caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. A 16-month-old child presents with hypertelorism, an elongated, flattened forehead, and syndactyly of hands and feet. There is synostosis of the coronal sutures, hypertelorism, and flattening and downward slanting of the shallow bony orbits (Figs. Apert syndrome, also called acrocephalosyndactyly, is a genetic syndrome characterized by anomalies of the skull, face and limbs. Apert syndrome is a severe craniofacial syndrome that was initially described in 1906 by French physician Eugene Apert. Box 1184, Fair Oaks, CA 95628, United States Carpenter syndrome It can be inherited as an autosomal dominant trait, although most cases are thought to be sporadic. Nasopharyngeal obstruction is seen in 50%, due to midface hypoplasia. Amniotic band syndrome [3, 17] He described the synostosis of cranial sutures and the severe syndactyly of fingers and toes, a condition that he named acrocephalosyndactyly.It is a rare disease, with an estimated incidence of 1/65.000 births. The incidence of Apert syndrome in the general population is ~1 in 160,000 live births. Abstract In 1906 Apert (2) first called attention to the syndrome of coronal suture synostosis (acrocephaly) and syndactylism. Scope: International network Founded: 1995 Address: P.O. Due to the premature fusion, the growth, shape and size of the cranium get affected. Apert syndrome is characterized by craniosynostosis and complex hand and foot syndactyly, and an increased risk of brain, palate, heart, and visceral malformations, and intellectual disability. Craniosynostosis. Diagn. Apert syndrome appears to be caused by either of two distinct point mutations in fibroblast growth factor receptor 2 (FGFR2). 6. Apert syndrome was originally described as a triad of: 1. craniosynostosis: brachycephaly 2. syndactyly 3. maxillary hypoplasia However, other features may include: 1. tower-shaped head and prominent forehead 2. hypertelorism 3. intellectual retardation (IQ however can be normal) 4. exophthalmos Its typical characteristic is a premature fusion of the skull bones, which prevents the skull from growing normally leading to … What is Apert Syndrome ? Incidence estimates vary from 1 in 65,000 to 1 in 120,000 births. Sir: We would like to thank Drs. Of the specific entities within this grouping, Apert syndrome is the most common. This study aims to describe the structural brain abnormalities detected by dedicated neuroimaging of fetuses with Apert syndrome. The differential includes other forms of acrocephalosyndactyly and acrocephalopolysyndactyly: ADVERTISEMENT: Supporters see fewer/no ads, Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Only one parent needs to carry the ... Radiology … Robson CD, Mulliken JB, Robertson RL et-al. Kaufmann K, Baldinger S, Pratt L. Ultrasound detection of Apert syndrome: a case report and literature review. 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). Nasopharyngeal obstruction is seen in 50%, due to midface hypoplasia. Skidmore DL, Pai AP, Toi A et-al. Sunken appearance of the face 2. Many syndromes and conditions include abnormalities of both the craniofacial structures and the limbs. Molecular analysis of fetal DNA can be used in Apert, Crouzon, Pfeiffer and Jackson–Weiss syndromes 15 - 22 when the family history is informative. Rubinstein-Taybi syndrome Apert syndrome may be diagnosed prenatally and presents clinically at birth. 7. Isolated familial syndactyly syndromes Lee DS, Chung KC. Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling. The orbits show downward slanting. Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. The association between syndactyly and craniosynostosis was first described by Apert in 1906. David AL, Turnbull C, Scott R et-al. The differential diagnosis of Crouzon syndrome includes Crouzon syndrome with acanthosis nigricans, Pfeiffer's syndrome, Apert syndrome, Saethre–Chotzen syndrome, Carpenter syndrome, and Jackson–Weiss syndrome. Apert syndrome is primarily characterized by a fusion of the skull bones that occurs too early during development (craniosynostosis) and webbing of the fingers and toes (syndactyly). [4,5,11,17,18] These syndromes show presence of limb and digital abnormalities, unlike Crouzon syndrome. Diagnosis Most patients demonstrate at least mild prognathism. 7. Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses. Bulging and/or wide-set eyes 3. Apert syndrome (acrocephalosyndactyly type 1) A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). Cranial findings seen in affected infants include a flattened, elongated forehead, turribrachycephaly, hypertelorism, exophthalmos, a bulbous nose, and a flattened nasal bridge. The anterior fontanelle is widely patent. Close phenotypic mimics are Crouzon syndrome and Pfeiffer syndrome, both of which are also caused by mutations in FGFR2. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. This page from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Apert syndrome. A 16-month-old child presents with hypertelorism, an elongated, flattened forehead, and syndactyly of hands and feet. Individuals with Apert syndrome typically have the following conditions: Can be passed on from the child’s parents through autosomal dominant inheritance - only one parent needs to have the abnormal gene for the child to inherit the disease. Later reviews have appeared in the medical literature but none in American radiological journals. Ther. The patients presented with limited joint mobility and were found to have multiple radiographic abnormalities, including subluxated or flattened humeral heads, irregularities of the glenoid cavity, and early fusion of the calcaneus to the cuboid bone. Patients with syndactyly, distal limb abnormalities, and craniosynotosis most often suffer from acrocephalosyndactyly. Diagn. The incidence of Apert syndrome in the general population is ~1 in 160,000 live births. The estimated incidence is 1 case per 65-80,000 pregnancies. Apert syndrome causes. The orbits show downward slanting. Apert syndrome appears to be caused by either of two distinct point mutations in fibroblast growth factor receptor 2 (FGFR2). With syndactyly, distal limb abnormalities, unlike Crouzon syndrome and Pfeiffer syndrome, of... 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