Spina bifida (Latin Latin or sometimes Roman is an Italic language originally spoken in Latium and Ancient Rome. Although often considered a dead language, in view of the fact that it has no native, fluent speakers, Latin continues to be taught in schools and has been, and currently is, used in the process of new word production in modern languages from many: "split spine") is a developmental birth defect Congenital disorder involves defects in or damage to a developing fetus. It may be the result of genetic abnormalities, the intrauterine environment, errors of morphogenesis, or a chromosomal abnormality. The outcome of the disorder will further depend on complex interactions between the pre-natal deficit and the post-natal environment. Animal caused by the incomplete closure of the embryonic An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination. In humans, it is called an embryo until about eight weeks after fertilization (i.e. ten weeks LMP), and from then it is instead called a fetus neural tube. Some vertebrae A vertebra is an individual bone in the flexible column that defines vertebrate animals, e.g., humans. The vertebral column encases and protects the spinal cord, which runs from the base of the cranium down the dorsal side of the animal until reaching the pelvis. From there, vertebrae continue into the tail overlying the spinal cord are not fully formed and remain unfused and open. If the opening is large enough, this allows a portion of the spinal cord to protrude through the opening in the bones. There may or may not be a fluid-filled sac surrounding the spinal cord. Other neural tube defects include anencephaly Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp. Children with this disorder are born without a forebrain, the largest part of, a condition in which the portion of the neural tube which will become the cerebrum The cerebrum or telencephalon, together with the diencephalon, constitute the forebrain. It is the most anterior or, especially in humans, most superior region of the vertebrate central nervous system. "Telencephalon" refers to the embryonic structure, from which the mature "cerebrum" develops. The dorsal telencephalon, or does not close, and encephalocele Encephalocele, sometimes known by the Latin name cranium bifidum, is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. Encephaloceles cause a groove down the, which results when other parts of the brain remain unfused.

Spina bifida malformations fall into four categories: spina bifida occulta, spina bifida cystica (myelomeningocele), meningocele and lipomeningocele. The most common location of the malformations is the lumbar In tetrapod anatomy, lumbar is an adjective that means of or pertaining to the abdominal segment of the torso, between the diaphragm and the sacrum . The lumbar region is sometimes referred to as the lower spine. In human anatomy the five vertebrae in the lumbar region of the back are the largest and strongest in the movable part of the spinal and sacral In vertebrate anatomy the sacrum is a large, triangular bone at the base of the spine and at the upper and back part of the pelvic cavity, where it is inserted like a wedge between the two hip bones. Its upper part connects with the last lumbar vertebra, and bottom part with the coccyx (tailbone). In children, it consists of usually five unfused areas . Myelomeningocele is the most significant form and it is this that leads to disability in most affected individuals. The terms spina bifida and myelomeningocele are usually used interchangeably.

Spina bifida can be surgically Surgery is a medical specialty that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, to help improve bodily function or appearance, and sometimes for religious reasons. An act of performing surgery may be called a surgical procedure, operation, or simply closed after birth, but this does not restore normal function to the affected part of the spinal cord. Intrauterine surgery for spina bifida has also been performed and the safety and efficacy of this procedure is currently being investigated. The incidence of spina bifida can be decreased by up to 75% when daily folic acid Folic acid and folate (the naturally occurring form), as well as pteroyl-L-glutamic acid and pteroyl-L-glutamate, are forms of the water-soluble vitamin B9. Folic acid is itself not biologically active, but its biological importance is due to tetrahydrofolate and other derivatives after its conversion to dihydrofolic acid in the liver supplements are taken prior to conception Fertilisation , is the fusion of gametes to produce a new organism. In animals, the process involves the fusion of an ovum with a sperm, which eventually leads to the development of an embryo. Depending on the animal species, the process can occur within the body of the female in internal fertilisation, or outside in the case of external.[1]

Contents

Classification

Spina bifida occulta

X-ray image of Spina bifida occulta in S-1

Occulta is Latin Latin or sometimes Roman is an Italic language originally spoken in Latium and Ancient Rome. Although often considered a dead language, in view of the fact that it has no native, fluent speakers, Latin continues to be taught in schools and has been, and currently is, used in the process of new word production in modern languages from many for "hidden." This is one of the mildest forms of spina bifida.[2]

In occulta, the outer part of some of the vertebrae are not completely closed.[3] The split in the vertebrae is so small that the spinal cord does not protrude. The skin at the site of the lesion Because the definition of lesion is so broad, the varieties of lesions are virtually endless. They are subsequently classified by their features. If a lesion is caused by a tumor it will be classified as malignant versus benign. Lesions may be classified by the shape they form, as is the case with many ulcers, which can have a bullseye or 'target' may be normal, or it may have some hair growing from it; there may be a dimple in the skin, a lipoma A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor. Lipomas are soft to the touch, usually movable, and are generally painless. Many lipomas are small but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in, a dermal sinus or a birthmark A birthmark is a blemish on the skin formed before birth. A little over 1 in 10 babies have a vascular birthmark.[dubious – discuss] They are part of the group of skin lesions known as nevi or naevi. The exact cause of most birthmarks is unknown, but vascular birthmarks are not hereditary and a lot of people have them. Not very many Asian people.[4]

Many people with the mildest form of this type of spina bifida do not even know they have it, as the condition is asymptomatic in most cases.[4] A systematic review of radiographic Radiography is the use of the property of X-rays to cross materials to view inside objects. The impact on society of this technique has been immense with application fields including medical, non-destructive testing, food inspection, security and archeology research studies found no relationship between spina bifida occulta and back pain.[5] More recent studies not included in the review support the negative findings.[6][7][8]

However, other studies suggest spina bifida occulta is not always harmless. One study found that among patients with back pain, severity is worse if spina bifida occulta is present.[9][10]

Spina bifida cystica

In spina bifida cystica, a cyst protrudes through the defect in the vertebral arch. These conditions can be diagnosed in utero on the basis of elevated levels of alpha-fetoprotein, after amniocentesis, and by ultrasound imaging. Spina bifida cystica may result in hydrocephalus and neurological deficits.

Meningocele

The least common form of spina bifida is a posterior meningocele (or meningeal cyst).

In a posterior meningocele, the vertebrae develop normally, however the meninges are forced into the gaps between the vertebrae. As the nervous system remains undamaged, individuals with meningocele are unlikely to suffer long-term health problems, although there are reports of tethered cord. Causes of meningocele include teratoma A teratoma, is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. There are rare occasions when not all three germ layers are identifiable. The tissues of a teratoma, although normal in themselves, may be quite different from surrounding tissues, and may be highly disparate; teratomas have and other tumors A tumor or tumour is the name for a neoplasm or a solid lesion formed by an abnormal growth of cells which looks like a swelling. Tumor is not synonymous with cancer. A tumor can be benign, pre-malignant or malignant, whereas cancer is by definition malignant of the sacrococcyx and of the presacral space, and Currarino syndrome, Bony defect with outpouching of meninges.[11]

Myelomeningocele

In this, the most serious and common[12] form, the unfused portion of the spinal column allows the spinal cord to protrude through an opening. The meningeal membranes that cover the spinal cord form a sac enclosing the spinal elements. Spina bifida with myeloschisis is the most severe form of spina bifida cystica. In this defect, the involved area is represented by a flattened, plate-like mass of nervous tissue with no overlying membrane. The exposure of these nerves and tissues make the baby more prone to life-threatening infections.[13]

The protruded portion of the spinal cord and the nerves which originate at that level of the cord are damaged or not properly developed. As a result, there is usually some degree of paralysis Paralysis is the complete loss of muscle function for one or more muscles. Paralysis can be accompanied by a loss of feeling in the affected area, if there is sensory damage as well as motor and loss of sensation below the level of the spinal cord defect. Thus, the higher the level of the defect the more severe the associated nerve dysfunction and resultant paralysis. People may have ambulatory problems, loss of sensation, deformities of the hips, knees or feet and loss of muscle tone. Depending on the location of the lesion, intense pain may occur originating in the lower back, and continuing down the leg to the back of the knee.

Many individuals with spina bifida will have an associated abnormality of the cerebellum The cerebellum is a region of the brain that plays an important role in motor control. It is also involved in some cognitive functions such as attention and language, and probably in some emotional functions such as regulating fear and pleasure responses, but it is its function in movement that is most clearly understood. The cerebellum does not, called the Arnold Chiari II malformation. In affected individuals the back portion of the brain is displaced from the back of the skull down into the upper neck. In approximately 90 percent of the people with myelomeningocele, hydrocephalus Hydrocephalus , also known as "Water on the Brain", is a medical condition. People with hydrocephalus have an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head, convulsion, and mental will also occur because the displaced cerebellum interferes with the normal flow of cerebrospinal fluid Cerebrospinal fluid , Liquor cerebrospinalis, sometimes called brain juice, is a clear bodily fluid that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord. In essence, the brain "floats" in it.

The myelomeningocele (or perhaps the scarring due to surgery) tethers the spinal cord. In some individuals this causes significant traction on the spinal cord and can lead to a worsening of the paralysis, scoliosis Scoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an x-ray, viewed from the rear, the spine of an individual with a typical scoliosis may look more like an "S" or a "C" than a straight line. It is typically classified as either, back pain, or worsening bowel and/or bladder function.

Signs and symptoms

Children with spina bifida often have hydrocephalus Hydrocephalus , also known as "Water on the Brain", is a medical condition. People with hydrocephalus have an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head, convulsion, and mental, which consists of excessive accumulation of cerebrospinal fluid Cerebrospinal fluid , Liquor cerebrospinalis, sometimes called brain juice, is a clear bodily fluid that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord. In essence, the brain "floats" in it in the ventricles of the brain The ventricular system is a set of structures containing cerebrospinal fluid in the brain. It is continuous with the central canal of the spinal cord.[14]

According to the Spina Bifida Association of America (SBAA), over 73 percent of people with spina bifida develop an allergy Allergy is a disorder of the immune system which is a form of hypersensitivity. Allergic reactions occur to normally harmless environmental substances known as allergens; these reactions are acquired, predictable, and rapid. Strictly, allergy is one of four forms of hypersensitivity and is called type I hypersensitivity. It is characterized by to latex LaTeX is a document markup language and document preparation system for the TeX typesetting program. Within the typesetting system, its name is styled as . The term LaTeX refers only to the language in which documents are written, not to the editor used to write those documents. In order to create a document in LaTeX, a .tex file must be created, ranging from mild to life-threatening. The common use of latex in medical facilities makes this a particularly serious concern. The most common approach to avoid developing an allergy is to avoid contact with latex-containing products such as examination gloves, condoms, catheters In medicine, a catheter is a tube that can be inserted into a body cavity, duct, or vessel. Catheters thereby allow drainage, injection of fluids, or access by surgical instruments. The process of inserting a catheter is catheterization. In most uses, a catheter is a thin, flexible tube , though in some uses, it is a larger, solid ("hard", and many of the products used by dentists.[3]

Pathophysiology

Spina bifida is caused by the failure of the neural tube In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural to close during the first month of embryonic An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination. In humans, it is called an embryo until about eight weeks after fertilization (i.e. ten weeks LMP), and from then it is instead called a fetus development (often before the mother knows she is pregnant).

Normally the closure of the neural tube occurs around 28 days after fertilization Fertilisation , is the fusion of gametes to produce a new organism. In animals, the process involves the fusion of an ovum with a sperm, which eventually leads to the development of an embryo. Depending on the animal species, the process can occur within the body of the female in internal fertilisation, or outside in the case of external.[15] However, if something interferes and the tube fails to close properly, a neural tube defect will occur. Medications such as some anticonvulsants The anticonvulsants are a diverse group of pharmaceuticals used in the treatment of epileptic seizures. Anticonvulsants are also increasingly being used in the treatment of bipolar disorder, since many seem to act as mood stabilizers. The goal of an anticonvulsant is to suppress the rapid and excessive firing of neurons that start a seizure, diabetes Diabetes mellitus, often simply referred to as diabetes—is a condition in which a person has high blood sugar, either because the body does not produce enough insulin, or because cells do not respond to the insulin that is produced. This high blood sugar produces the classical symptoms of polyuria , polydipsia (increased thirst) and polyphagia (, having a relative with spina bifida, obesity Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health, leading to reduced life expectancy and/or increased health problems. Body mass index , a measurement which compares weight and height, defines people as overweight (pre-obese) when their BMI is between 25 kg/m2 and 30, and an increased body temperature from fever Fever is a common medical sign characterized by an elevation of temperature above the normal range of 36.5–37.5 °C (98–100 °F) due to an increase in the body temperature regulatory set-point. This increase in set-point triggers increased muscle tone and shivering or external sources such as hot tubs and electric blankets can increase the chances a woman will conceive a baby with a spina bifida. However, most women who give birth to babies with spina bifida have none of these risk factors, and so in spite of much research, it is still unknown what causes the majority of cases.

The varying prevalence of spina bifida in different human populations and extensive evidence from mouse strains with spina bifida suggests a genetic basis for the condition. As with other human diseases such as cancer Cancer /ˈkænsər/ (medical term: malignant neoplasm) is a class of diseases in which a group of cells display uncontrolled growth (division beyond the normal limits), invasion (intrusion on and destruction of adjacent tissues), and sometimes metastasis (spread to other locations in the body via lymph or blood). These three malignant properties, hypertension Hypertension or high blood pressure is a chronic medical condition in which the blood pressure in the arteries is elevated. It is the opposite of hypotension. It is classified as either primary (essential) or secondary. About 90-95% of cases are termed "primary hypertension", which refers to high blood pressure for which no medical cause and atherosclerosis Atherosclerosis is a condition in which an artery wall thickens as the result of a build-up of fatty materials such as cholesterol. It is a syndrome affecting arterial blood vessels, a chronic inflammatory response in the walls of arteries, in large part due to the accumulation of macrophage white blood cells and promoted by low-density (coronary artery disease), spina bifida likely results from the interaction of multiple genes A gene is a unit of heredity in a living organism. It is normally a stretch of DNA that codes for a type of protein or for an RNA chain that has a function in the organism. All living things depend on genes, as they specify all proteins and functional RNA chains. Genes hold the information to build and maintain an organism's cells and pass genetic and environmental factors.

Research has shown that lack of folic acid Folic acid and folate (the naturally occurring form), as well as pteroyl-L-glutamic acid and pteroyl-L-glutamate, are forms of the water-soluble vitamin B9. Folic acid is itself not biologically active, but its biological importance is due to tetrahydrofolate and other derivatives after its conversion to dihydrofolic acid in the liver (folate) is a contributing factor in the pathogenesis of neural tube defects, including spina bifida. Supplementation of the mother's diet with folate can reduce the incidence of neural tube defects by about 70 percent, and can also decrease the severity of these defects when they occur.[16][17][18] It is unknown how or why folic acid has this effect.

Spina bifida does not follow direct patterns of heredity Heredity is the passing of traits to offspring . This is the process by which an offspring cell or organism acquires or becomes predisposed to the characteristics of its parent cell or organism. Through heredity, variations exhibited by individuals can accumulate and cause a species to evolve. The study of heredity in biology is called genetics, like muscular dystrophy Muscular dystrophy refers to a group of hereditary muscle diseases that weaken the muscles that move the human body. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. Nine diseases including Duchenne, Becker, limb girdle, congenital, or haemophilia. Studies show that a woman who has had one child with a neural tube defect such as spina bifida, have about a three percent risk of having another child with a neural tube defect Neural tube defects are one of the most common birth defects, occurring in approximately one in 1,000 live births in the United States. An NTD is an opening in the spinal cord or brain that occurs very early in human development. In about the 3rd or 4th weeks of pregnancy, specialized cells on the dorsal side of the fetus begin to fuse and form. This risk can be reduced to about one percent if the woman takes high doses (4 mg The gram , (Greek/Latin root grámma); symbol g, is a unit of mass/day) of folic acid before and during pregnancy. For the general population, low-dose folic acid supplements are advised (0.4 mg/day).

Prevention

There is no single cause of spina bifida nor any known way to prevent it entirely. However, dietary supplementation with folic acid has been shown to be helpful in preventing spina bifida (see above). Sources of folic acid include whole grains Whole grains are cereal grains that contain bran and germ as well as the endosperm, in contrast to refined grains, which retain only the endosperm. Wholegrains can generally be sprouted while processed grains generally will not sprout. Wholemeal products are made from wholegrain flour, fortified breakfast cereals A breakfast cereal is a packaged breakfast food. It is sometimes eaten cold, usually mixed with milk, water or yogurt, but sometimes eaten dry. Some cereals, such as oatmeal, may be served hot as porridge. Some companies promote their products for the health benefits from eating oat-based and high-fiber cereals. Cereals may be fortified with, dried beans Bean is a common name for large plant seeds of several genera of the family Fabaceae used for human food or animal feed, leaf vegetables Leaf vegetables, also called potherbs, green vegetables, greens, or leafy greens, are plant leaves eaten as a vegetable, sometimes accompanied by tender petioles and shoots. Although they come from a very wide variety of plants, most share a great deal with other leaf vegetables in nutrition and cooking methods and fruits.[19]

Folate fortification of enriched grain products has been mandatory in the United States since 1998. The U.S. Food and Drug Administration, Public Health Agency of Canada[20] and UK recommended amount of folic acid for women of childbearing age and women planning to become pregnant is at least 0.4 mg/day of folic acid from at least three months before conception, and continued for the first 12 weeks of pregnancy.[21] Women who have already had a baby with spina bifida or other type of neural tube defect, or are taking anticonvulsant medication should take a higher dose of 4–5 mg/day.[21]

Certain mutations in the gene VANGL1 are implicated as a risk factor for spina bifida: these mutations have been linked with spina bifida in some families with a history of spina bifida.[22]

Pregnancy screening

Neural tube defects can usually be detected during pregnancy by testing the mother's blood (AFP screening) or a detailed fetal ultrasound. Spina bifida may be associated with other malformations as in dysmorphic syndromes, often resulting in spontaneous miscarriage. However, in the majority of cases spina bifida is an isolated malformation.

Genetic counseling and further genetic testing, such as amniocentesis, may be offered during the pregnancy as some neural tube defects are associated with genetic disorders such as trisomy 18. Ultrasound screening for spina bifida is partly responsible for the decline in new cases, because many pregnancies are terminated out of fear that a newborn might have a poor future quality of life. With modern medical care, the quality of life of patients has greatly improved.[15]

Treatment

There is no known cure for nerve damage due to spina bifida. To prevent further damage of the nervous tissue and to prevent infection, pediatric neurosurgeons operate to close the opening on the back. During the operation for spina bifida cystica, the spinal cord and its nerve roots are put back inside the spine and covered with meninges. In addition, a shunt may be surgically installed to provide a continuous drain for the cerebrospinal fluid produced in the brain, as happens with hydrocephalus. Shunts most commonly drain into the abdomen. However, if spina bifida is detected during pregnancy, then open fetal surgery can be performed.

Most individuals with myelomeningocele will need periodic evaluations by specialists including orthopedists to check on their bones and muscles, neurosurgeons to evaluate the brain and spinal cord and urologists for the kidneys and bladder. Such care is best begun immediately after birth. Most affected individuals will require braces, crutches, walkers or wheelchairs to maximize their mobility. As a general rule, the higher the level of the spina bifida defect the more severe the paralysis, but paralysis does not always occur. Thus, those with low levels may need only short leg braces while those with higher levels do best with a wheelchair, and some may be able to walk unaided. Many will need to manage their urinary system with a program of catheterization. Most will also require some sort of bowel management program, though some may be virtually unaffected.

Fetal surgery clinical trials

Management of Myelomeningocele Study (MOMS)[23] is a phase III clinical trial to evaluate the safety and efficacy of fetal surgery to close a myelomeningocele. This involves surgically opening the pregnant mother's abdomen and uterus to operate on the fetus. This route of access to the fetus is called "open fetal surgery". Fetal skin grafts are used to cover the exposed spinal cord, to protect it from further damage caused by prolonged exposure to amniotic fluid. The fetal surgery may decrease some of the damaging effects of the spina bifida, but at some risk to both the fetus and the pregnant woman.

In contrast to the open fetal operative approach tested in the MOMS, a minimally invasive approach has been developed by the German Center for Fetal Surgery & Minimally Invasive Therapy at the University of Bonn, Germany.[24] This minimally invasive approach uses three small tubes (trocars) with an external diameter of 5 mm that are directly placed via small needle punctures through the maternal abdominal wall into the uterine cavity. Via this route, the unborn can be postured and its spina bifida defect be closed using small instruments. In contrast to open fetal surgery for spina bifida, the fetoscopic approach results in less trauma to the mother as large incisions of her abdomen and uterus is not required.

Epidemiology

Spina bifida is one of the most common birth defects, with an average worldwide incidence of 1–2 cases per 1000 births, but certain populations have a significantly greater risk.

In the United States, the average incidence is 0.7 per 1000 live births. The incidence is higher on the East Coast than on the West Coast, and higher in whites (1 case per 1000 live births) than in blacks (0.1–0.4 case per 1000 live births). Immigrants from Ireland have a higher incidence of spina bifida than do nonimmigrants.[25][26]

The highest incidence rates worldwide were found in Ireland and Wales, where 3–4 cases of myelomeningocele per 1000 population have been reported during the 1970s, along with more than six cases of anencephaly (both live births and stillbirths) per 1000 population. The reported overall incidence of myelomeningocele in the British Isles was 2–3.5 cases per 1000 births.[25][26] Since then, the rate has fallen dramatically with 0.15 per 1000 live births reported in 1998[15], though this decline is partially accounted for by the fact that some foetuses are aborted when tests show signs of spina bifida (see Pregnancy screening below).

Parents of children with spina bifida have an increased risk of having a second child with a neural tube defect.[25][26]

This condition is more likely to appear in females; the cause for this is unknown.

Society and culture

Media

A young girl living with spina bifida was the subject of a Canadian short documentary I'll Find a Way, winner of the Academy Award for Best Live Action Short Film in 1977.[27]

Notable people

People of note born with spina bifida:

See also

References

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  27. ^ Shaffer, Beverly (1977). "I'll Find a Way". National Film Board of Canada Web site. http://www.nfb.ca/film/Ill_find_a_way. Retrieved 2009-05-27.
  28. ^ Martin, Dan (2008-06-14). "Dan Martin meets Blaine from the Mystery Jets". guardian.co.uk. http://www.guardian.co.uk/music/2008/jun/14/features16.theguide. Retrieved 2008-08-06.
  29. ^ Interview with actress Sascha Knopf from Shallow Hal
  30. ^ John Mellencamp bio from Yahoo Music
  31. ^ Gavin, Kara (2001). "U-M Neurosurgeon Urges Women to Protect their Children by Taking Folic Acid". Medicine at Michigan 3 (2). http://www.medicineatmichigan.org/magazine/2001/spring/huron/huron12.asp. Retrieved 2008-07-03.
  32. ^ a b Lewine, Edward (March 1, 2009). "Domains: Country House". New York Times (The New York Times Company): pp. MM17. http://www.nytimes.com/2009/03/01/magazine/01wwln-domains-t.html. Retrieved 2009-03-02.

External links

Congenital malformations and deformations of nervous system (Q00-Q07, 740-742)
Brain
Neural tube defect Anencephaly (Acephaly, Acrania, Iniencephaly) · Encephalocele · Arnold-Chiari malformation
Other

Microcephaly · Congenital hydrocephalus (Dandy-Walker syndrome)

other reduction deformities (Holoprosencephaly, Lissencephaly, Pachygyria, Hydranencephaly)

Septo-optic dysplasia · Megalencephaly

CNS cyst (Porencephaly, Schizencephaly)

Polymicrogyria (Bilateral frontoparietal polymicrogyria)
Spinal cord
Neural tube defect Spina bifida · Rachischisis
Other Currarino syndrome · Diastomatomyelia · Syringomyelia

: CNS

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Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)
Appendicular: Limb/ dysmelia
Upper

clavicle/shoulder: Cleidocranial dysostosis · Sprengel's deformity · Wallis Zieff Goldblatt syndrome

hand deformity: Madelung's deformity · Clinodactyly · Oligodactyly · Polydactyly
Lower

hip: Dislocation of hip/Hip dysplasia · Upington disease · Coxa valga · Coxa vara

knee: Genu valgum · Genu varum

foot deformity: varus (Club foot, Pigeon toe) · valgus (Flat feet) · Pes cavus · Rocker bottom foot · Hammer toe
Either/both

dactyly/digit: Polydactyly/Syndactyly (Webbed toes) · Arachnodactyly · Cenani Lenz syndactylism · Ectrodactyly · Brachydactyly (Clubbed thumb)

reduction deficits/limb: Acheiropodia · ectromelia (Phocomelia, Amelia, Hemimelia)

multiple joints: Arthrogryposis · Larsen syndrome · Rapadilino syndrome
Axial
Craniofacial

Craniosynostosis: Scaphocephaly · Oxycephaly · Trigonocephaly

Craniofacial dysostosis: Crouzon syndrome · Hypertelorism · Hallermann-Streiff syndrome · Treacher Collins syndrome

other: Macrocephaly · Platybasia · Craniodiaphyseal dysplasia · Dolichocephaly · Greig cephalopolysyndactyly syndrome · Plagiocephaly · Saddle nose
Vertebral column spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta
Thoracic skeleton

ribs: Cervical rib · Bifid rib

sternum: Pectus excavatum · Pectus carinatum

: JNT

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noco(///)/, /,

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Categories: Dermal and subcutaneous growths | Congenital disorders of nervous system | Congenital disorders of musculoskeletal system | Disability

 

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