Craniosynostosis 1584059 225060320 2008-07-11T18:16:44Z Dseniuk67 7461153 /* Diagnosis */ {{Infobox_Disease | Name = {{PAGENAME}} | Image = Cranialsynostosis.jpg | Caption = Child with premature closure ('''craniosynostosis''') of the [[lambdoid suture]]. Notice the swelling on the right side of the head | DiseasesDB = 3160 | ICD10 = {{ICD10|Q|75|0|q|70}} | ICD9 = {{ICD9|756.0}} | ICDO = | OMIM = 218500 | MedlinePlus = | eMedicineSubj = med | eMedicineTopic = 2897 | MeshID = D003398 | }} '''Craniosynostosis''',<ref>{{cite web | last = Silva | first = Sandra | authorlink = | coauthors = Philippe Jeanty | title = Cloverleaf skull or kleeblattschadel | work = TheFetus.net | publisher = MacroMedia | date = 1999-06-07 | url = http://www.thefetus.net/page.php?id=340 | format = | doi = | accessdate = 2007-02-03 }}</ref> is a medical condition in which some or all of the [[cranial sutures|suture]]s in the [[skull]] of an [[infant]] or child close too early, causing problems with normal [[human brain|brain]] and skull growth. It can result in craniostenosis, which is the skull deformity caused by the premature closure of the cranial sutures. Also [[intracranial pressure]] can be increased. ==Normal skull development== In humans, the adult skull is normally made up of 28 bones. The flat bones making up the cranial vault are joined together by sutures: rigid articulations permitting very little movement. At birth, the human skull is made up of 45 separate bony elements. As growth occurs, many of these bony elements gradually fuse together into solid bone (for example, the [[frontal bone]]s). The bones of the roof of the skull are initially separated by regions of dense [[connective tissue]]. At birth these regions are fibrous and moveable, necessary for birth and later growth. Larger regions of connective tissue, called [[fontanelle]]s, occur where certain bony elements meet. As growth and ossification progress, the connective tissue of the fontanelles is invaded and replaced by bone. The posterior fontanelle usually closes by eight weeks, but the anterior fontanelle can remain up to eighteen months. ==Pathophysiology== When one or more sutures fuse prematurely, skull growth can be restricted perpendicular to the suture. If multiple sutures fuse while the brain is still increasing in size, intracranial pressure can increase. Primary craniosynostosis is believed to be a result of primary defect in the mesenchymal layer ossification in the cranial bones. Secondary craniosynostosis is a result of primary failure of brain growth. ==Diagnosis== Physicians diagnose craniosynostosis through [[physical examination]], plain [[X-ray#Medical uses|x-rays]], and [[computed tomography|CT scans]]. <ref name="AFP"> {{cite journal | last = Kabbani H | coauthors = Raghuveer TS | title = Craniosynostosis | journal = American Family Physician | volume = 69 | issue = 12 | pages = 2863–70 | date = 2004 Jun 15 | url = http://www.aafp.org/afp/20040615/2863.html | pmid = 15222651}}</ref> ===Syndromes=== Craniosynostosis often occurs alone, however about 20% of cases are associated with [[syndrome]]s. A syndrome is diagnosed by considering the presence of a variety of features, [[Medical sign|sign]]s, and [[symptom]]s throughout the body. [[Genetic testing]] may be available to confirm the diagnosis of a specific syndrome. A [[family history (medicine)|family history]] of abnormal head shape can sometimes be found with genetic syndromes, though many syndromes are caused by new genetic [[mutation]]s, and there is no family history of the disorder. <ref name="AFP"/> The most common causes of syndromic craniosynostosis are Crouzon syndrome and Apert syndrome. However, there are over 150 syndromes associated with craniosynostosis. <ref name="AFP"/> The following table lists some of the craniosynostosis syndromes, as well as prominent additional symptoms that are found in these syndromes — this is not a comprehensive list of all symptoms that could occur within each syndrome. There is considerable overlap of symptoms between many of these syndromes, and clinical evaluation by a [[geneticist]] may be necessary to determine the most appropriate diagnosis. {| class="wikitable" width="100%" ! Name of syndrome ! Other signs and symptoms (along with craniosynostosis; may not all be present) ! OMIM reference ! Gene |- | '''[[Crouzon syndrome]]''' | wide-set, bulging eyes • beaked nose • flat face | align="center"| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123500 123500] | [[FGFR2]], [[FGFR3]] |- | '''[[Apert syndrome]]''' | fused fingers or toes • flat midface | align="center"| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101200 101200] | [[FGFR2]] |- | [[Crouzonodermoskeletal syndrome]] | wide-set, bulging eyes • beaked nose • flat face • dark, velvety [[skin fold]]s • spine abnormalities • benign growths in the jaw | align="center"| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934 134934] | [[FGFR3]] |- | [[Jackson-Weiss syndrome]] | enlarged, bent big toes • flat midface | align="center"| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123150 123150] | [[FGFR1]], [[FGFR2]] |- | [[Loeys-Dietz syndrome]] | wide-set eyes • split uvula or cleft palate • arterial tortuosity • aneurysms | align="center"| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609192 609192] | [[TGFBR1]] |- | [[Muenke syndrome]] | coronal synostosis • skeletal abnormalities of the hands or feet • hearing loss | align="center"| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602849 602849] | [[FGFR3]] |- | [[Pfeiffer syndrome]] | broad, short thumbs or big toes • webbed or fused fingers or toes | align="center"| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101600 101600] | [[FGFR1]], [[FGFR2]] |- | [[Saethre-Chotzen syndrome]] | facial asymmetry • low frontal hairline • drooping eyelids • webbed fingers or toes • broad big toes | align="center"| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101400 101400] | [[TWIST1]] |- | [[Shprintzen-Goldberg syndrome]] | bulging eyes • flat face • hernias • long, thin fingers • developmental delay • mental retardation | align="center"| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182212 182212] | [[FBN1]] |} ===Differential diagnosis=== A separate cause of abnormal head shape is [[positional plagiocephaly]] — flattened or misshapen areas on the head that may develop due to sleeping position. While the appearance may look rather similar to craniosynostosis, the distinction is important. Positional plagiocephaly does not require surgery — treatment can be as simple as occasionally repositioning the child's head while sleeping or, in some cases, wearing a cranial band to mold the skull. <ref name="AFP"/> It has recently been discovered that using certain prescription drugs during pregnancy may lead to this disorder. (sertraline) [[Image:Cranialband.jpg|thumb|right|200px|A child wearing a cranial helmet.]] ==Treatment== [[Craniofacial surgery|Surgery]] is typically used to separate the fused sutures of the skull as well as to reshape the skull. To treat the cosmetic troubles, a combination of [[orthodontics|orthodontic]] and [[orthognathic surgery|orthognathic]] surgery can be used to relieve some of the midface deficiency. Typical surgery begins with a [[zigzag]] [[incision]] from [[ear]] to ear across the top of the [[head]]. The [[scar]] left by this type of incision makes the [[hair]] look more natural than that left by a straight incision would. [[Leroy clip]]s are typically used to curtail bleeding, as [[cauterization]] would not result in an aesthetically pleasing result upon healing. Once the [[scalp]] is peeled back, pilot holes are drilled through the skull. These pilot holes are then connected, separating the skull into several pieces. Once reshaped, these pieces are placed back on the head (typically in an altered configuration) and held together by a combination of dissolving [[suture]]s, plates, and [[screw]]s. These plates and screws are typically composed of a [[copolymer]] comprised of [[polyglycolide|polyglycolic]] and [[polylactic acid]] and will break down into [[water]] and [[carbon dioxide]] within a year. [[Demineralized bone matrix]] or [[bone morphogenetic protein]]s are often used to fill gaps left by the expanded skull, encouraging the body to grow new bone in a process called [[intramembranous ossification]]. Once the hemostatic scalp clips are removed, sutures are again used to close the incision. Newer approaches include minimally invasive endoscopic assisted removal of the closed suture followed by treatment with custom made molding helmets. These surgeries are associated with significantly less blood loss, swelling, hospital length of stay and pain. The results have been excellent in the majority of patients treated this way. Endoscopic surgery, however, is indicated only for very young infants(< 6 months of age). Older children require the more extensive surgery described above. ==Epidemiology== In the [[United States]], the [[incidence (epidemiology)|incidence]] of craniosynostosis is estimated to be 1 in 2000–3000 live births. ==See also== * [[Cephalic disorder]] * [[Positional plagiocephaly]] (flattened head syndrome) ==External links== * http://cappskids.org/board/index.php?s= Craniosynostosis support group - parents of children with Craniosynostosis * http://cappskids.org/ Craniosynostosis support group * [http://www.headlines.org.uk/ Headlines Support Group] — British based support group for Craniosynostosis * [http://www.childrenshospital.org/az/Site2130/mainpageS2130P0.html Overview of craniosynostosis] from Children's Hospital Boston * [http://www.aafp.org/afp/20040615/2863.html Craniosynostosis] — comprehensive overview (American Family Physician) * [http://www.thecraniofacialcenter.org/craniosynostoses.html Single Suture Craniosynostoses] (The Craniofacial Center in Dallas, Texas) * [http://www.craniokids.org/ Cranio Kids] — craniosynostosis support * [http://www.jenniferboyer.com/craniosynostosis.html An adult survivor's perspective] *[http://www.craniosynostosis.net/results.shtml Photo Gallery Results] of less invasive craniosynostosis procedure performed at University Health System, San Antonio, TX *[http://www.craniosupport.net/ Cranio Support Web Page] - Midwest Craniosynostosis story and support web page * [http://www.craneosinostosis.org.es/ Grupo de padres de niños con craneosinostosis - Web site in spanish about craniosinotosis] ==References== <references/> [http://www.craneosinostosis.org.es Web site in spanish about craniosinotosis]<br> {{Congenital malformations and deformations of musculoskeletal system}} [[Category:Skeletal disorders]] [[Category:Pediatrics]] [[Category:Oral and maxillofacial surgery]] [[de:Kraniosynostose]] [[es:Craneosinostosis]] [[fr:Craniosynostose]] [[nl:Craniosynostose]] [[pl:Kraniosynostoza]]