Craniosynostosis
Classifications and external resources

Child with premature closure (craniosynostosis) of the lambdoid suture. Notice the swelling on the right side of the head
ICD-10	Q75.0

Craniosynostosis is a medical medical condition in which some or all of the sutures in the skull of an infant close too early, causing problems with normal 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. Image File history File linksMetadata Download high-resolution version (800x880, 153 KB)An image of a child with Lamdoid Cranial Synostosis. ... The lambdoid suture (sutura lambdoidea) is a dense, fibrous connective tissue joint that separates the parietal and temporal bones of the skull from the occipital bone. ... The International Statistical Classification of Diseases and Related Health Problems (commonly known by the abbreviation ICD) is a detailed description of known diseases and injuries. ... The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... A wound before and after being closed by sutures Sutures are the stitches doctors, and especially surgeons, use to hold skin, internal organs, blood vessels and all other tissues of the human body together, after they have been severed by injury or surgery. ... A hippopotamus skull A skull, or cranium, is a bony structure of Craniates which serves as the general framework for a head. ... A human infant Infant is a formal term for the word baby, the youngest category of a child. ... The human brain. ... Craniostenoses are a group of cephalic disorders in which the plates of the cranium in children fuse prematurely, resulting in deformities of the skull. ... Intracranial pressure, or ICP, is the pressure of the brain, Cerebrospinal fluid (CSF), and the brains blood supply within the intracranial space. ...

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 bones). The frontal bone (os frontale, TA: A02. ...

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 fontanelles, 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. In the human body there are four types of tissue: (1) Epithelial, (2) Connective, (3) Muscle, and (4) Nervous Tissue. ... This is about the human anatomical feature. ...

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-rays, and CT scans. ^[1] In medicine, the physical examination or clinical examination is the process by which the physician investigates the body of a patient for signs of disease. ... In the NATO phonetic alphabet, X-ray represents the letter X. An X-ray picture (radiograph) taken by Röntgen An X-ray is a form of electromagnetic radiation with a wavelength approximately in the range of 5 pm to 10 nanometers (corresponding to frequencies in the range 30 PHz... CT apparatus in a hospital Computed tomography (CT), originally known as computed axial tomography (CAT or CT scan) and body section roentgenography, is a medical imaging method employing tomography where digital geometry processing is used to generate a three-dimensional image of the internals of an object from a large...

Syndromes

Craniosynostosis often occurs alone, however about 20% of cases are associated with syndromes. A syndrome is diagnosed by considering the presence of a variety of features, signs, and symptoms throughout the body. Genetic testing may be available to confirm the diagnosis of a specific syndrome. A family history of abnormal head shape can sometimes be found with genetic syndromes, though many syndromes are caused by new genetic mutations, and there is no family history of the disorder. ^[1] In medicine, the term syndrome is the association of several clinically recognizable features, signs, symptoms, phenomena or characteristics which often occur together, so that the presence of one feature alerts the physician to the presence of the others. ... In medicine, a sign is a feature of disease as detected by the doctor during physical examination of a patient. ... The term symptom (from the Greek syn = con/plus and pipto = fall, together meaning co-exist) has two similar meanings in the context of physical and mental health: Strictly, a symptom is a sensation or change in health function experienced by a patient. ... Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ... In medicine, a family history consists of information about disorders that a patients direct blood relatives have suffered from. ... In biology, mutations are changes to the genetic material (either DNA or RNA). ...

The most common causes of syndromic craniosynostosis are Crouzon syndrome and Apert syndrome. However, there are over 150 syndromes associated with craniosynostosis. ^[1] 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. Look up geneticist in Wiktionary, the free dictionary. ...

Crouzon Syndrome is a type of genetic disorder known as a branchial arch syndrome. ... Apert Syndrome, virtually synonymous with Acrocephalosyndactyly, is a branchial arch syndrome, characterized by a number of clinical features, resulting from a developmental anomaly. ... Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. ... Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. ... Loeys-Dietz syndrome is a recently-discovered autosomal dominant genetic syndrome which has many features similar to Marfan syndrome, but which is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2). ... Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. ... Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type 3 (ACS III) and Chotzen syndrome is a very rare congenital syndrome characterised by craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). ...

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. ^[1] Positional plagiocephaly or deformational plagiocephaly is a flat head in an infant caused by too much time on his or her back. ...

A child wearing a cranial band.

Image File history File linksMetadata Cranialband. ... Image File history File linksMetadata Cranialband. ...

Treatment

Surgery is typically used to separate the fused sutures of the skull as well as to reshape the skull. Without surgery, blindness and mental retardation is a typical outcome. To treat the cosmetic troubles, a combination of orthodontic and orthognathic surgery can be used to relieve some of the midface deficiency. Intraoperative X-Ray of a Humerus fixated by Kirschner wires Surgery (from the Greek meaning hand work) is the medical specialty that treats diseases or injuries by operative manual and instrumental treatment. ... To meet Wikipedias quality standards, this article may require cleanup. ... Orthognathic surgery is surgery to correct conditions of the jaw and face related to structure, growth, sleep apnea, or to assist in orthodontic treatment. ...

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. Raney clips 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 sutures, plates, and screws. These plates and screws are typically composed of a copolymer comprised of polyglycolic and polylactic acid and will break down into water and carbon dioxide within a year. Demineralized bone matrix or bone morphogenetic proteins 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 Raney clips are removed, dissolving sutures are again used to close the incision. A zigzag is a pattern made up of many small corners at an acute angle, tracing a path between two parallel lines; it can be described as both jagged and fairly regular. ... Cutting is the separation of a physical object, or a portion of a physical object, into two portions, through the application of an acutely directed force. ... The ear is the sense organ that detects sound. ... A human head In anatomy, the head of an animal is the rostral part (from anatomical position) that usually comprises the brain, eyes, ears, nose, and mouth (all of which aid in various sensory functions, such as sight, hearing, smell, and taste). ... A hypertrophic scar on the ilium of the pelvis Both hypertrophic and keloid scars are more common on younger and darker skinned people. ... Young Girl Fixing her Hair, by Sophie Gengembre Anderson Hair is a filamentous outgrowth from the skin, found mainly in mammals. ... Hot cauters were applied to tissues or arteries to stop them from bleeding. ... The scalp is the anatomical area bordered by the face anteriorly and the neck to the sides and posteriorly. ... A wound before and after being closed by sutures Sutures are the stitches doctors, and especially surgeons, use to hold skin, internal organs, blood vessels and all other tissues of the human body together, after they have been severed by injury or surgery. ... Screws come in a variety of shapes and sizes for different purposes. ... A heteropolymer, also called a copolymer, is a polymer formed when two different types of monomer are linked in the same polymer chain. ... Polyglycolide is a polymer of glycolic acid, the simplest linear, aliphatic polyester. ... Polylactic acid or Polylactide (PLA) is a biodegradable, thermoplastic, aliphatic polyester derived from lactic acid. ... Impact of a drop of water. ... Carbon dioxide is a chemical compound composed of one carbon and two oxygen atoms. ... Bone morphogenetic proteins (BMPs) are growth factors belonging to the TGF-β (Transforming Growth Factor-beta) super family with a strong ability to induce new bone and/or cartilage formation. ... Osteoblasts and osteoclasts on trabecula of lower jaw of calf embryo. ...

In addition, many patients wear a custom fitted helmet (or cranial band) for several months after surgery.

Epidemiology

In the United States, the incidence of craniosynostosis is estimated to be 1 in every 2000-3000 live births. In optics one considers angles of incidence. ...

See also

• Cephalic disorder
• Craniostenosis
• Positional plagiocephaly (flattened head syndrome)

Cephalic disorders are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. ... Craniostenoses are a group of cephalic disorders in which the plates of the cranium in children fuse prematurely, resulting in deformities of the skull. ... Positional plagiocephaly or deformational plagiocephaly is a flat head in an infant caused by too much time on his or her back. ...

External links

• Craniosynostosis - comprehensive overview (American Family Physician)
• Craniosynostosis - images and links (Geneva Foundation for Medical Education and Research)
• Craniosynostosis - brief overview (Seattle Children's Craniofacial Center)
• Single Suture Craniosynostoses (The Craniofacial Center in Dallas, Texas)
• Cranio Kids - craniosynostosis support
• An adult survivor's perspective

References

1. ^ ^a b c d Kabbani H, Raghuveer TS (2004 Jun 15). "Craniosynostosis". American Family Physician 69 (12): 2863-70. PMID 15222651.