What is microphthalmia?

Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated. Read more about coloboma.
How common is microphthalmia?

Microphthalmia occurs in approximately 1 in 10,000 individuals.

What genes are related to microphthalmia?

Microphthalmia may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes.

Most genetic changes associated with isolated microphthalmia have been identified only in very small numbers of affected individuals. Microphthalmia may also be caused by environmental factors that affect early development, such as a shortage of certain vitamins during pregnancy, radiation, infections such as rubella, or exposure to substances that cause birth defects (teratogens). See a list of genes associated with microphthalmia.
How do people inherit microphthalmia?

Isolated microphthalmia is sometimes inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In some cases, parents of affected individuals have less severe eye abnormalities. When microphthalmia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal recessive or other patterns. Often microphthalmia is not inherited, and there is only one affected individual in a family.
Where can I find information about diagnosis or management of microphthalmia?

These resources address the diagnosis or management of microphthalmia and may include treatment providers.

Gene Review: Anophthalmia/Microphthalmia Gene Tests: RAX-Related Anophthalmia/Microphthalmia Gene Tests: SIX6-Related Eye Disorders Gene Tests: VSX2-Related Isolated Microphthalmia

You might also find information on the diagnosis or management of microphthalmia in Educational resources and Patient support. To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about microphthalmia?

You may find the following resources about microphthalmia helpful. These materials are written for the general public.

MedlinePlus - Health information (3 links) Additional NIH Resources - National Institutes of Health National Eye Institute: Facts About Anophthalmia and Microphthalmia

Educational resources - Information pages (2 links) Patient support - For patients and families (4 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Gene Reviews

- Clinical summary - Linking patients to medical research

Gene Tests - DNA tests ordered by healthcare professionals (3 links) ClinicalTrials.gov PubMed - Recent literature

OMIM - Genetic disorder catalog (18 links)

What other names do people use for microphthalmia?

microphthalmos

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.
What if I still have specific questions about microphthalmia?

Ask the Genetic and Rare Diseases Information Center .

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language. What does it mean if a disorder seems to run in my family? What are the different ways in which a genetic condition can be inherited? If a genetic disorder runs in my family, what are the chances that my children will have the condition? Why are some genetic conditions more common in particular ethnic groups? These links provide additional genetics resources that may be useful. Genetics and health Resources for Patients and Families Resources for Health Professionals
What glossary definitions help with understanding microphthalmia?

anophthalmia ; autosomal ; autosomal recessive ; birth defect ; cataract ; cell ; choroid ; cornea ; gene ;infection ; inheri tance ; inheritance pattern ; mutation ; optic nerve ; palpebral fissure ; posterior ; radiation ;recessive ; retina ; sign ; sy mptom ; syndrome ; teratogens ; tissue ; vitamins You may find definitions for these and many other terms in the Genetics Home Reference Glossary. See also Understanding Medical Terminology.
Reference: http://ghr.nlm.nih.gov/condition/microphthalmia

Anophthalmia And Microphthalmia Fact Book

Table of Contents

Other Names What are anophthalmia and microphthalmia? What causes anophthalmia and microphthalmia? Can anophthalmia and microphthalmia be treated? How do conformers and prosthetic eyes look? How is microphthalmia managed if there is residual vision in the eye? Keeping on top of your condition Resources

Other Names
Anophthalmos and microphthalmos, small eye syndrome.

What are anophthalmia and microphthalmia?

Anophthalmia and microphthalmia are often used interchangeably. Microphthalmia is a disorder in which one or both eyes are abnormally small, while anophthalmia is the absence of one or both eyes. These rare disorders develop during pregnancy and can be associated with other birth defects.

What causes anophthalmia and microphthalmia?

Causes of these conditions may include genetic mutations and abnormal chromosomes. Researchers also believe that environmental factors, such as exposure to X-rays, chemicals, drugs, pesticides, toxins, radiation, or viruses, increase the risk of anophthalmia and microphthalmia, but research is not conclusive. Sometimes the cause in an individual patient cannot be determined.
Back to Top Click Here for the Latest News on Anophthalmia and Microphthalmia Back to Top

Can anophthalmia and microphthalmia be treated?

There is no treatment for severe anophthalmia or microphthalmia that will create a new eye or restore vision. However, some less severe forms of microphthalmia may benefit from medical or surgical treatments. In almost all cases improvements to a child's appearance are possible. Children can be fitted for a prosthetic (artificial) eye for cosmetic purposes and to promote socket growth. A newborn with anophthalmia or microphthalmia will need to visit several eye care professionals, including those who specialize in pediatrics, vitreoretinal disease, orbital and oculoplastic surgery, ophthalmic genetics, and prosthetic devices for the eye. Each specialist can provide information and possible treatments resulting in the best care for the child and family. The specialist in prosthetic diseases for the eye will make conformers, plastic structures that help support the face and encourage the eye socket to grow. As the face develops, new conformers will need to be made. A child with anophthalmia may also need to use expanders in addition to conformers to further enlarge the eye socket. Once the face is fully developed, prosthetic eyes can be made and placed. Prosthetic eyes will not restore vision.

How do conformers and prosthetic eyes look?

A painted prosthesis that looks like a normal eye is usually fitted between ages one and two. Until then, clear conformers are used. When the conformers are in place the eye socket will look black. These conformers are not painted to look like a normal eye because they are changed too frequently. Every few weeks a child will progress to a larger size conformer until about two years of age. If a child needs to wear conformers after age two, the conformers will be painted like a regular prosthesis, giving the appearance of a normal but smaller eye. The average child will need three to four new painted prostheses before the age of 10.
Back to Top Click Here for the Latest News on Anophthalmia and Microphthalmia Back to Top

How is microphthalmia managed if there is residual vision in the eye?

Children with microphthalmia may have some residual vision (limited sight.) In these cases, the good eye can be patched to strengthen vision in the microphthalmic eye. A prosthesis can be made to cap the microphthalmic eye to help with cosmetic appearance, while preserving the remaining sight.

Keeping on Top of Your Condition

Keeping in tune with your disease or condition not only makes treatment less intimidating but also increases its chance of success, and has been shown to lower a patients risk of complications. As well, as an informed patient, you are better able to discuss your

condition and treatment options with your physician. A new service available to patients provides a convenient means of staying informed, and ensures that the information is both reliable and accurate. If you wish to find out more about HealthNewsflash's innovative service, take the tour.

Reference: http://www.healthnewsflash.com/conditions/anophthalmia_and_microphthalmia.php

Polydactyly
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Polydactyly
by Julia and Coco

Description of Disease
Polydactyly is having more than the normal amount of fingers or toes. It is the most common of hand disabilities. It can also be called polydactylia, polydactilism, or hyperdactyly. It can occur without other diseases or symptoms and as a dominant trait in families that has one gene and several different variations to it. Polydactyly happens because of errors to the process of fetal development. The extra digits are because of genetic defects. The usual causes are familial polydactyly (inherited), Ellis-van Creveld Syndrome, Carpenter Syndrome, Trisomy 13, Rubenstein-Taybi Syndrome, Smith-Lemli-Opitz, Laurence-Moon-Biedl Syndrome, and Asphyxiating Thoracic Dystrophy.The condition is usually inherited as an autosomal dominant characteristic. This means that the gene is not sex-linked, so females and males are both able to inherit the condition equally. Because the gene is also dominant, a kid with one parent who has the trait will have a fifty percent chance of getting it. There may be different degrees of polydactyly even within the same family and the same gene. African Americans inherit six fingers or more more often than other ethnicities, but it doesn't show a genetic disease most of the time. However, polydactyly can happen at the same time as a genetic disease. There are two separate forms of polydactyly. There is post-axial (the thumb side of the hand before axis) and post-axial (the

little finger side of the hand before axis).The excess digits can be undeveloped and only attached by a little stalk mostly on the small finger side of the hand or fully formed and working. People with the condition may have a small extra stub or many other fingers or toes. The different ways that poydactyly can affect the hand are one, a small bump on the side of the hand, two, having more than four fingers and a thumb,three,having a finger that hangs by a small amount of skin or a stalk from the hand, and four, having a finger that widens into two fingers in which both fingers are usually smaller. Also, polydactyly can happen at the same time when excess digits are fused together, which is called polysndactyly. Polydactyly is thought to be common in humans as a development abnormality; it is reported in 2 out of 1,000 kids. It is an old trait, and except for a quirk in evolution, all animals living in modern times would have seven or eight digits instead of five. The oldest animals with four legs had seven or eight digits, but they disappeared about 350 million years ago.

Effects
People with polydactyly usually have to learn to cope with the extra fingers or have them removed. If someone chooses to have excess fingers removed they would usually get them removed early in life, often under age one. People with this condition get their extra digits removed for a variety of reasons. This includes so that they can be accepted by society and for practicality reasons; most common utensils and ordinary objects are designed for hands with five fingers. People who are affected by polydactyly will not be affected by any illnesses due to the disord

Treatment and Prognosis

If the extra digits on the hands or feet are not fully developed digits, then it is possible to remove them by tying a piece of string around the skin or stalk that is attaching it to the hand, which causes the finger or toe to fall off within a period of time.If t he digits are fully developed and functional it can be surgically removed or kept.

Reference: http://runkle-science.wikispaces.com/Polydactyly

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Ventricular Septal Defect (VSD)

Heart Disease Slideshow Pictures Medical Illustrations of the Heart Image Collection Take the Heart Disease Quiz!
Medical Author: John Mersch, MD, FAAP

Medical Editor: William C. Shiel Jr., MD, FACP, FACR

What is a ventricular septal defect (VSD)? How common is a VSD? What is the normal design of the heart? How do VSDs cause problems? How is a VSD diagnosed? What are the symptoms of a VSD? What if the VSD is small? How is a small VSD treated? What if the VSD is large? How is a large VSD treated? What is the outlook (prognosis) after a VSD is repaired? What are complications of VSD surgery? What about unusual cases of VSD? What are long-term precautions with VSDs? Ventricular Septal Defect At A Glance Find a local Cardiologist in your town

What is a ventricular septal defect (VSD)?

A ventricular septal defect (VSD) is a heart malformation present at birth. Any condition that is present at birth can also be termed a "congenital" condition. A VSD, theref a type of congenital heart disease (CHD). The heart with a VSD has a hole in the wall (the septum) between its two lower chambers (the ventricles).

How common is a VSD?

The most frequent types of congenital malformations affect the heart. It is estimated that approximately eight in 1,000 newborns have CHD. A VSD is the most frequent o various types of CHD (25%-30% of all CHD). Approximately one infant in 500 will be born with a VSD.

What is the normal design of the heart?

The heart is made up of four separate chambers. The upper right chamber (atrium) receives blood back from the body with much of the oxygen extracted by the body organ

tissues. The blood is then pumped through a one-way valve into the lower right chamber (ventricle) from which it is pumped to the lungs to be again enriched with oxygen highly oxygenated blood then returns to the upper left sided chamber (atrium) and next passes through a one way valve into the lower left chamber (ventricle). From there, oxygenated blood is pumped out into a large blood vessel (the aorta) and is distributed throughout the body through arteries.

The two upper chambers (right and left atria) are separated by a wall of muscle called the septum. Similarly the two lower chambers (right and left ventricles) are also sepa by a separate muscular septum. These septa (plural of septum) keep the lower oxygenated blood that has returned from the body from mixing with the highly oxygenated b which has returned from the lungs. A VSD is a hole in the ventricular septum.

How do VSDs cause problems?

The pressure generated during contraction by the left ventricle is higher than that generated by the simultaneous contraction of the right ventricle. Blood will thus be pushe through the VSD (also called "shunted") from the left ventricle to the right ventricle. The right ventricle has to do extra work to handle the additional blood volume. It may trouble keeping up with the load and enlarge, affecting its ability to pump efficiently. In addition, the lungs receive too much blood under too much pressure. The arteriole arteries) in the lungs thicken in response to the excess blood under excess pressure. If this extra pressure persists, permanent damage can be done to the lungs. It makes a considerable difference whether the size of the VSD is small or large.

Reference: http://www.medicinenet.com/ventricular_septal_defect/article.htm

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Ventricular Septal Defect (cont.)

Heart Disease Slideshow Pictures Medical Illustrations of the Heart Image Collection Take the Heart Disease Quiz!
Medical Author: John Mersch, MD, FAAP Medical Editor: William C. Shiel Jr., MD, FACP, FACR

IN THIS ARTICLE What is a ventricular septal defect (VSD)? How common is a VSD? What is the normal design of the heart? How do VSDs cause problems? How is a VSD diagnosed? What are the symptoms of a VSD? What if the VSD is small? How is a small VSD treated? What if the VSD is large? How is a large VSD treated?

What is the outlook (prognosis) after a VSD is repaired? What are complications of VSD surgery? What about unusual cases of VSD? What are long-term precautions with VSDs? Ventricular Septal Defect At A Glance Ventricular Septal Defect Glossary Ventricular Septal Defect Index Find a local Cardiologist in your town

How is a VSD diagnosed? What are the symptoms of a VSD?

The diagnosis of a VSD is usually suspected clinically by hearing a characteristic heart murmur. A murmur is a sound generated by abnormally turbulent flow of blood through the heart. This murmur is the result of blood being shunted through the VSD from the higher-pressure left ventricle into the lower-pressure right ventricle. At birth, this pressure imbalance is minimal and does not usually develop until later in the first week of life. As such, it is rare for a doctor to hear the murmur of a VSD until the baby is a few days of age. The evaluation of a child with a possible VSD is designed to confirm the diagnosis but also to check for other anatomical defects in the heart and to estimate the size of the shunt of blood from the left to right ventricle. Such an evaluation usually begins with anelectrocardiogram (EKG, sometimes also abbreviated ECG) and possibly a chest X-ray. A soundwave test of the heart (echocardiogram) is used to define the anatomy and evaluate the characteristics (amount and pressures) of the shunted blood. With the advent of superb echocardiography, the previously requiredcardiac catheterization is rarely necessary.

What if the VSD is small?

Small defects (less than 0.5 square cm) are common. With a small VSD, there is minimal shunting of blood and the pressure in the right ventricle remains normal. Since the right ventricular pressure is normal, there is no damage to the lung arterioles. The heart functions normally. A prominent murmur heard through a stethoscope is usually the only sign that brings the VSD to attention. This murmur is commonly noted during the first week of life.

Reference: http://www.medicinenet.com/ventricular_septal_defect/page2.htm

RENAL FUSION (HORSESHOE KIDNEY)

Most people are born with two kidneys, which are located in the back of the abdominal cavity on either side of the body covered by the ribs. But factors can occasionally interfere with the development of the kidneys as is the case for people with renal fusion abnormalities. The following information will help you talk to your urologist when your condition, or that of your child, belongs to this family of diseases. What happens under normal conditions? The kidney is the organ whose principal function is to filter toxins from the blood and maintain an appropriate chemical environment so that the body's other organ systems can function properly. Other functions that the kidneys serve include maintaining appropriate blood pressure and ensuring that enough red blood cells are produced by the bone marrow. As a child develops in its mother's uterus, the kidneys are formed lower in the abdomen and gradually ascend to their final position as they develop. What is horseshoe kidney? Horseshoe kidney occurs in about one in 500 children. It occurs during fetal development as the kidneys move into their normal position. With horseshoe kidney, however, as the kidneys of the fetus rise from the pelvic area, they fuse together at the lower end or base. By fusing, they form a "U" shape, which gives it the name "horseshoe." It is believed that this condition exists more frequently in males. What are the symptoms of a horseshoe kidney? Horseshoe kidneys are much more frequently symptomatic than other varieties of fused andectopic kidneys. Up to 70 percent of children and adults with this abnormality will have symptoms, which can include abdominal pain, nausea, kidney stones and urinary tract infections. Although still rare, cancerous tumors are somewhat more likely to occur in horseshoe kidneys than in normal kidneys. Blood in the urine, a mass in the abdomen and flank pain can be symptoms of a kidney tumor. How is horseshoe kidney treated? In a child without symptoms, treatment may not be necessary. If your child has complications, they may require supportive treatment, which means their symptoms will be treated, but there is no cure for the condition. As with ectopic kidneys, obstruction and vesicoureteral reflux are very common in these patients and may require surgical correction. What can be expected after treatment for horseshoe kidney? It is important to note that if the patient's only complaint from the horseshoe kidney is pain, surgery frequently will not relieve the pain.

Reference: http://www.urologyhealth.org/urology/index.cfm?article=21

47,+13 (Trisomy 13, Patau syndrome)

Description: A description of the Trisomy 13 genetic abnormality. Trisomy 13, also known as Patau syndrome, results from the presence of an additional chromosome 13. Trisomy 13 occurs in approximately 1 in 10,000 births (Jorde et al., 2000). The biological consequences of having an additional chromosome 13 are enormous. It is estimated that 95% or more of trisomy 13 conceptions result in miscarriage (Jorde et al., 2000). Of those babies that do survive the pregnancy, approximately 90% of infants will not survive the first year of life (Jorde et al., 2000). The additional chromosome present in people with trisomy 13 is contributed most often by the egg cell; although in approximately 10% of cases, the chromosome is contributed by the sperm cell (Jorde et al., 2000). As with other trisomic conditions, the chance to have a child with trisomy 13 is correlated with maternal age. As women grow older, the chance to have a child with trisomy 13 also increases (Gardner and Sutherland, 1996). At 35 years of age, a woman's chance to have a child with trisomy 13 is 1 in 3,330. At 42 years of age, a woman's chance increases to 1 in 1,430. Women who are 35 years of age or older at delivery are commonly offered additional prenatal diagnosis options because of the increased risk.

Babies born with trisomy 13 frequently have some combination of the following findings:

Central nervous system defects Severe mental retardation (IQ 20-35) Posterior scalp lesions Oral-facial clefts Small, abnormally shaped eyes (microphthalmia) Heart defect An extra pinky finger (polydactyly) Additional organ anomalies

Reference: http://www.larasig.com/node/3473

What is trisomy 13?

Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers and/or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year.
How common is trisomy 13?

Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age can have a child with trisomy 13, the chance of having a child with this condition increases as a woman gets older.
What are the genetic changes related to trisomy 13?

Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13. Trisomy 13 can also occur when part of chromosome 13 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. Affected people have two normal copies of chromosome 13, plus an extra copy of chromosome 13 attached to another chromosome. In rare cases, only part of chromosome 13 is present in three copies. The physical signs and symptoms in these cases may be different than those found in full trisomy 13. A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only some of the body's cells. In these people, the condition is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The physical features of mosaic trisomy 13 are often milder than those of full trisomy 13. Read more about chromosome 13.
Can trisomy 13 be inherited?

Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each cell of the body. Translocation trisomy 13 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. These rearrangements are called balanced translocations because there is no extra material from chromosome 13. A person with a balanced translocation involving chromosome 13 has an increased chance of passing extra material from chromosome 13 to their children.
Reference: http://ghr.nlm.nih.gov/condition/trisomy-13

The Simian Line (a.k.a. 'simian crease'): why is it recognized as an unusual line?
Typical for the human hand is the presence of 3 major hand lines. One of these major hand lines is positioned vertical in the hand, surrounding the thumb mouse (this line is also known as the 'life line'). And the other two major hand lines are positioned horizontal in the hand, but usually they do not cross the full palm (the distal line is known as the 'heart line', the proximal line is known as the 'head line'). The presence of the classic simian line is indicated when the two horizontal creases appear to be fused into one single crease, which (usually) crosses the full palm - see the red line in the picture in the left column.
In medical science is the simian line classified as a minor physical anomaly (MPA). [NOTICE: MPA's have generally no specified meaning, unless they are obsverved in combination with certain other MPA's ].

Paul Broca (1877) was the first who described the unusual characteristic of the simian line (a.k.a the 'simian crease' or 'single palm transverse crease') for the human hand. The word 'simian' refers to the fact that the hands of primates (simians) are usually featured with multiple likewise horizontal lines that transverse the full palm. Two decades later the diagnostic significance of the simian line was established when R.L. Down discovered in 1906 that the 'single palmar crease' is a very common characteristic in Down's syndrome (after R.L. Down's father - the English physician, J. Langdon Down - had

discovered Down syndrome in 1866). During the 20th century the simian line became linked with a 'rainbow' ofsyndromes, diseases & other medial problems. And in modern 'Hand Analysis' the simian line has also been linked with various personality characteristics(often featured with a negative connotation, only sometimes recognized as positive 'gift marker'). In 2000 a movie was presented titled: 'The Simian Line' (a drama featuring e.g.: Cindy Crawford, William Hurt & Harry Connick Jr.) - inspired by the fact that this famous, but notorious, hand crease has touched the lives of many people around the world. Today the (complete) simian line is known to be found in about 1 in 30 caucasian people (3%) - though in certain populations (Asian populations are the most well-known example) simian lines are more often seen. Studies in large populations have shown that the simian lines is usually twice more often seen in men (4%) compared to women (2%).

Reference: http://www.handresearch.com/diagnostics/simian-line.htm

Cleft Lip and Cleft Palate

Cleft lip and cleft palate are facial and oral malformations that occur very early in pregnancy, while the baby is developing inside its mother. Clefting results when there is not enough tissue in the mouth or lip area, and the tissue that is available does not join together properly. A cleft lip is a physical split or separation of the two sides of the upper lip and appears as a narrow opening or gap in the skin of the upper lip. This separation often extends beyond the base of the nose and includes the bones of the upper jaw and/or upper gum.
Recommended Related to Oral Health
Fissured Tongue If you have fissures in your tongue, it's likely no cause for concern. In fact, certain types of grooves or cracks are considered simply a variation of a normal tongue. Sometimes called a plicated or scrotal tongue, this condition is often harmless. However, it's rarely a good idea to diagnose yourself. So, if you have any concerns, set your mind at ease by discussing this with your doctor or oral specialist. Read the Fissured Tongue article > >

A cleft palate is a split or opening in the roof of the mouth. A cleft palate can involve the hard palate (the bony front portion of the roof of the mouth), and/or the soft palate (the soft back portion of the roof of the mouth).

Cleft lip and cleft palate can occur on one or both sides of the mouth. Because the lip and the palate develop separately, it is possible to have a cleft lip without a cleft palate, a cleft palate without a cleft lip, or both a cleft lip and cleft palate together. Who Gets Cleft Lip and Cleft Palate? Cleft lip, with or without cleft palate, affects one in 700 babies annually, and is the fourth most common birth defect in the U.S. Clefts occur more often in children of Asian, Latino, or Native American descent. Compared with girls, twice as many boys have a cleft lip, both with and without a cleft palate. However, compared with boys, twice as many girls have cleft palate without a cleft lip. What Causes a Cleft Lip and Cleft Palate? In most cases, the cause of cleft lip and cleft palate is unknown. These conditions cannot be prevented. Most scientists believe clefts are due to a combination of genetic and environmental factors. There appears to be a greater chance of clefting in a newborn if a sibling, parent, or relative has had the problem. Another potential cause may be related to a medication a mother may have taken during her pregnancy. Some drugs may cause cleft lip and cleft palate. Among them: anti-seizure/anticonvulsant medications, acne medications containingAccutane, and methotrexate, a drug commonly used for treating cancer, arthritis, and psoriasis. Cleft lip and cleft palate may also occur as a result of exposure to viruses or chemicals while the fetus is developing in the womb. In other situations, cleft lip and cleft palate may be part of another medical condition. How Are Cleft Lip and Cleft Palate Diagnosed? Because clefting causes very obvious physical changes, a cleft lip or cleft palate is easy to diagnose. Prenatal ultrasound can sometimes determine if a cleft exists in an unborn child. If the clefting has not been detected in an ultrasound prior to the baby's birth, a physical examination of the mouth, nose, and palate confirms the presence of cleft lip or cleft palate after a child's birth. Sometimes diagnostic testing may be conducted to determine or rule out the presence of other abnormalities. Who Treats Children With Cleft Lip and/or Palate? Due to the number of oral health and medical problems associated with a cleft lip or cleft palate, a team of doctors and other specialists is usually involved in the care of these children. Members of a cleft lip and palate team typically include: Plastic surgeon to evaluate and perform necessary surgeries on the lip and/or palate An otolaryngologist (an ear, nose, and throat doctor) to evaluate hearing problems and consider treatment options for hearing problems An oral surgeon to reposition segments of the upper jaw when needed, to improve function and appearance and to repair the cleft of the gum An orthodontist to straighten and reposition teeth A dentist to perform routine dental care

A prosthodontist to make artificial teeth and dental appliances to improve the appearance and to meet functional requirements for eating and speaking A speech pathologist to assess speech and feeding problems A speech therapist to work with the child to improve speech An audiologist (a specialist in communication disorders stemming from a hearing impairment); to assess and monitor hearing A nurse coordinator to provide ongoing supervision of the child's health A social worker/psychologist to support the family and assess any adjustment problems A geneticist to help parents and adult patients understand the chances of having more children with these conditions The health care team works together to develop a plan of care to meet the individual needs of each patient. Treatment usually begins in infancy and often continues through early adulthood.

Reference: http://www.webmd.com/oral-health/cleft-lip-cleft-palate

Cleft lip and cleft palate occur in about 1 or 2 of every 1,000 babies born in the United States each year, making it one of the most common major birth defects. Clefts occur more often in children of Asian, Latino, or Native American descent.

The good news is that both cleft lip and cleft palate are treatable. Most kids born with these can have surgery to repair these defects within the first 12-18 months of life.

About Oral Clefting

An orofacial cleft occurs when parts of the lip or palate do not completely fuse together during the first 3 months of pregnancy. A cleft lip may appear as a small notch in the edge of the lip only or extend into the nose. It may also extend into the gums.

A cleft palate may also vary in size, from a defect of the soft palate only to a complete cleft that extends through the hard palate. Because the lips and the palate develop separately, it is possible for a child to be born with a cleft lip only, cleft palate only, or both.

Most clefts can be categorized into three broad categories:

1. cleft lip without a cleft palate 2. cleft palate without a cleft lip 3. cleft lip and cleft palate together A cleft can occur on one side of the mouth (unilateral clefting) or on both sides of the mouth (bilateral clefting). Cleft lip with or without cleft palate is generally more common among boys; however, cleft palate occurring alone is more common in girls than boys.

For the most part, because a cleft lip is visible it is often easier to identify than a cleft palate alone. A cleft lip may be detected through prenatal ultrasound; however, diagnosing a cleft palate this way is more difficult and it might not be seen. Even if a cleft condition is detected during pregnancy, the diagnosis and extent of cleft lip and palate is confirmed by physical examination after the birth of the child.