Dyspepsia

Dyspepsia, meaning hard or difficult digestion, is chronic or recurrent pain or discomfort centered in the upper abdomen Discomfort, in this context, includes mild pain, upper abdominal fullness and feeling full earlier than expected with eating. It can be accompanied by bloating, belching, nausea or heartburn. Many people get dyspepsia. It is often caused by lifestyle factors, such as smoking and diet, but there are some serious causes such as cancer of the stomach, peptic ulcer disease and some medications. When people have dyspepsia but no risk factors for any of the serious causes, it can be labeled undifferentiated dyspepsia and treated without further investigations. When people have been investigated for dyspepsia but no cause has been found it can be labeled as functional dyspepsia.

Symptoms:
It is essential to inquire about the following ALARMS Symptoms when assessing dyspepsia

* Anaemia.
* Loss of Weight.
* Anorexia.
* Recent onset of progressive symptoms.
* Melaena or haematemesis.
* Swallowing difficulties.

Treatment:
Functional and undifferentiated dyspepsia have similar treatments. Decisions around the use of drug therapy are difficult because trials included heartburn in the definition of dyspepsia. This led to the results favoring proton pump inhibitors (PPIs), which are questionably effective for the treatment of heartburn.

Traditional therapies used for this diagnosis include lifestyle modification, antacids, H2-receptor antagonists (H2-RAs), prokinetic agents, and antiflatulents. It is has been noted that one of the most frustrating aspects of treating functional dyspepsia is that these traditional agents have been shown to have little or no efficacy.

Antacids and sucralfate were found to be no better than placebo in a literature review. H2-RAs have been shown to have marked benefit in poor quality trials (30% relative risk reduction), but only a marginal benefit in good quality trials. Prokinetic agents would empirically seem to work well since delayed gastric emptying is considered a major pathophysiological mechanism in functional dyspepsia. They have been shown in a meta-analysis to produce a relative risk reduction of up to 50%, but the studies evaluated to come to this conclusion used the drug cisapride which has since been removed from the market (now only available as an investigational agent due to serious adverse events such as torsades¬, and publication bias has been cited as a potential partial explanation for such a high benefit. Modern prokinetic agents such as metoclopramide, erythromycin and tegaserod have little or no established efficacy and often result in substantial side effects. Simethicone has been found to be of some value, as one trial suggests potential benefit over placebo and another shows equivalence with cisapride. So, with the somewhat recent advent of the proton pump inhibitor (PPI) class of medications, the question of whether these new agents are superior to traditional therapy has arisen.

A 2004 meta-analysis pooling data from three double-blind placebo-controlled studies found the multiple herbal extract Iberogast to be significantly more effective than placebo (p value = 0.001) at treating patients with functional dyspepsia through the targeting of multiple dyspeptic pathologies. This German-made phytopharmaceutical was found to be equivalent to cisapride and significantly superior to metochlopramide at reducing the symptoms of functional dyspepsia over a four week period. Retrospective surveillance of 40,961 children (12 years and under) found no serious side-effects.

Currently, PPIs are, depending on the specific drug, FDA indicated for erosive esophagitis, gastroesophageal reflux disease (GERD), Zollinger-Ellison syndrome, eradication of H. pylori, duodenal and gastric ulcers, and NSAID-induced ulcer healing and prevention, but not functional dyspepsia. There are, however, evidence-based guidelines and literature that evaluate the use of PPIs for this indication. A helpful chart summarizing the major trials is available from the functional dyspepsia guidelines published in the World Journal of Gastroenterology in 2006.

The CADET study was the first to compare a PPI (omeprazole 20mg daily) to both an H2-RA (ranitidine 150mg BID) as well as a prokinetic agent (cisapride 20mg BID) alongside placebo. The study evaluated these agents in patients at 4 weeks and 6 months and noted that omeprazole had a significantly better response at 6 months (31%) than cisapride (13%) or placebo (14%) (p = 0.001) while it was just above the cutoff for being statistically significantly better than ranitidine (21%) (p = 0.053). Omeprazole also showed a significant increase in quality of life scores over the other agents and placebo in all but one category measured (p = 0.01 to 0.05).

The ENCORE study, which was a follow-up of patients from the OPERA study, showed responders to omeprazole therapy had fewer clinic visits than non-responders (1.5 vs 2.0) over a three month period (p < 0.001).

Dyspareunia

Dyspareunia is painful sexual intercourse, due to medical or psychological causes. The term is used almost exclusively in women, although the problem can also occur in men. The causes are often reversible, even when long-standing, but self-perpetuating pain is a factor after the original cause has been removed. Dyspareunia is considered to be primarily a physical, rather than an emotional, problem until proven otherwise. In most instances of dyspareunia, there is an original physical cause. Extreme forms, in which the woman's pelvic floor musculature contracts involuntarily, is termed vaginismus.

Painful intercourse can be difficult to talk about. If you're experiencing painful intercourse, you may wonder if the pain is all in your head or the result of something you're doing wrong in bed. After all, sex is supposed to be pleasurable, right?

The truth is that sex isn't pleasurable or pain-free for all women all the time. In fact, many women experience painful intercourse at some point in their lives, for a variety of very normal reasons. The medical term for painful intercourse is dyspareunia — which is defined as persistent or recurrent genital pain that occurs just before, during or after intercourse and that causes you personal distress. And painful intercourse is worth talking about, because there are treatments that can help eliminate or reduce this common problem.

Causes:
Causes of painful intercourse vary by the location of the pain.

Causes of entry pain-
Pain during penetration may be associated with a range of factors, including:

* Inadequate lubrication. This is often the result of not enough foreplay. Inadequate lubrication is also commonly caused by a drop in estrogen levels after menopause, after childbirth or during breast-feeding. In addition, certain medications are known to inhibit desire or arousal, which can decrease lubrication and make sex painful. These include antidepressants, high blood pressure medications, sedatives, antihistamines and certain birth control pills.
* Injury, trauma or irritation. This includes injury or irritation from an accident, pelvic surgery, female circumcision, episiotomy or a congenital abnormality.
* Inflammation, infection or skin disorder. An infection in your genital area or urinary tract can cause painful intercourse. Eczema or other skin problems in your genital area also can be the problem.
* Reactions to birth control products. It's possible to have an allergic reaction to foams, jellies or latex. Pain may also be caused by an improperly fitted diaphragm or cervical cap.
* Vaginusmus. Involuntary spasms of the muscles of the vaginal wall (vaginismus) can make attempts at penetration very painful.
* Vestibulitis. Painful penetration also occurs in a condition called vestibulitis, which is characterized by unexplained stinging or burning around the opening of your vagina.

Causes of deep pain-
Deep pain usually occurs with deep penetration and may be more pronounced with certain positions. Causes include:

* Certain illnesses and conditions. The list includes endometriosis, pelvic inflammatory disease, uterine prolapse, retroverted uterus, uterine fibroids, cystitis, irritable bowel syndrome, hemorrhoids and ovarian cysts.
* Infections. An infection of your cervix, uterus or fallopian tubes can cause deep pain.
* Surgeries or medical treatments. Scarring from surgeries that involve your pelvic area, including hysterectomy, can sometimes cause painful intercourse. In addition, medical treatments for cancer, such as radiation and chemotherapy, can cause changes that make sex painful.

Emotional factors-
Emotions are deeply intertwined with sexual activity and may play a role in any type of sexual pain. Emotional factors include:

* Psychological problems. If you experience anxiety, depression, concerns about your physical appearance, fear of intimacy or relationship problems, it can contribute to painful intercourse.
* Stress. Your pelvic floor muscles are very sensitive to stress. So stress can lead to painful intercourse.
* History of sexual abuse. Most women with dyspareunia don't have a history of sexual abuse, but if you have been abused, it may play a role.

Sometimes, it can be difficult to tell whether psychological factors are a cause or result of dyspareunia. Initial pain can lead to fear of recurring pain, making it difficult to relax, which can lead to more pain.

Symptoms:
Researchers estimate that up to 60 percent of women experience episodes of genital pain that occurs just before, during or after intercourse. But the location of pain and frequency of pain varies greatly. If you experience painful intercourse, you may feel:

* Pain with every penetration, even while putting in a tampon.
* Pain with certain partners or just under certain circumstances.
* New pain after previously pain-free intercourse.
* Superficial (entry) pain.
* Deep pain during thrusting, which is often described as "something being bumped".
* Burning pain or aching pain.

Most women with dyspareunia complain of superficial pain, which occurs upon penetration.

Diagnosis:
If you have recurrent pain during sex, talking to your doctor is the first step in resolving it. Primary care doctors and gynecologists often ask about sex and intimacy as part of a routine medical visit, and you can take this opportunity to discuss your concerns. Your regular doctor may diagnose and treat the problem or refer you to a specialist who can.

A medical evaluation for dyspareunia usually consists of:

A thorough medical history- Your doctor may ask when your pain began, exactly where it hurts, how it feels, and if it happens with every sexual partner and every sexual position. Your doctor may also inquire about your sexual history, surgical history and previous childbirth experiences. Don't let embarrassment stop you from giving candid answers. These questions provide clues to the cause of your pain.
A pelvic examination- During a pelvic exam, your doctor can check for signs of skin irritation, infection or anatomical problems. He or she may also try to identify the location of your pain through gentle touch of the genital area and pelvic muscles, and a speculum examination of the vagina. Some women who experience painful intercourse are also uncomfortable during a pelvic exam, no matter how gentle the doctor is. You can ask to stop the exam at any time if it's too painful.
Additional tests- If your doctor suspects certain causes of painful intercourse, he or she might also recommend a pelvic ultrasound or laparoscopy — a minor surgical procedure in which a slender viewing instrument (laparoscope) is used to view your pelvic organs.

Treatment:
Painful intercourse used to be viewed primarily as a psychological problem that required psychological treatment. Fortunately, that view is outdated. Researchers and doctors now understand the many causes of dyspareunia and recommend an integrated, multifaceted treatment approach. Your particular treatment depends on the underlying cause of your pain, but treatment may include:

Hygiene habits
Avoid scented bath products, such as body washes and shower gels. These products can irritate your genital area and zap your natural lubrication, particularly if you overuse them. Skip douching as well.

Sexual techniques and counseling
You and your partner may be able to minimize pain with a few changes to your sexual routine:

Switch positions- If you experience sharp pain during thrusting, the penis may be striking your cervix or stressing the pelvic floor muscles, causing aching or cramping pain. Changing positions may help. You can try being on top of your partner during sex. Women usually have more control in this position, so you may be able to regulate penetration to a depth that feels good to you.
Communicate- Talk about what feels good and what doesn't. If you need your partner to go slow, say so.
Don't rush to the main event- Longer foreplay can help stimulate your natural lubrication. And you may reduce pain by delaying penetration until you feel fully aroused.
Use lubricants- A water-based lubricant, such as K-Y jelly or Astroglide, can make sex more comfortable. If contraceptive creams cause irritation or dryness, try a different preparation or ask your doctor about switching to another type of birth control.

Medications and therapies
In some cases, medications or therapy are necessary to treat painful intercourse.

Treating underlying conditions- If an infection or medical condition is contributing to your pain, treating the underlying cause may resolve your problem. Changing medications known to cause lubrication problems also may eliminate your symptoms.
Estrogen therapy- For most postmenopausal women, dyspareunia is caused by inadequate lubrication resulting from low estrogen levels. Often, this can be treated with a prescription cream, tablet or flexible vaginal ring.
Other medications- In some cases, your doctor may suggest an oral prescription pain medication or injections of pain medications into the site of the pain.
Desensitization therapy- During this therapy, you learn vaginal relaxation exercises that can decrease pain. Your therapist may recommend pelvic floor exercises (Kegel exercises) or other techniques to decrease pain with intercourse.
Counseling or sex therapy- If sex has been painful for a long time, you may experience a negative emotional response to sexual stimulation even after treatment. If you and your partner have avoided intimacy because of painful intercourse, you may also need help improving communication with your partner and restoring sexual intimacy. Talking to a counselor or sex therapist can help resolve these issues.

Dysmenorrhea

Dysmenorrhea (or dysmenorrhoea) is a medical condition characterized by severe uterine pain during menstruation. While many individuals experience minor pain during menstruation, dysmenorrhea is diagnosed when the pain is so severe as to limit normal activities, or require medication.

Dysmenorrhea can feature different kinds of pain, including sharp, throbbing, dull, nauseating, burning, or shooting pain. Dysmenorrhea may precede menstruation by several days or may accompany it, and it usually subsides as menstruation tapers off. Dysmenorrhea may coexist with excessively heavy blood loss, known as menorrhagia.

Secondary dysmenorrhea is diagnosed when symptoms are attributable to an underlying disease, disorder, or structural abnormality either within or outside the uterus. Primary dysmenorrhea is diagnosed when none of these are detected.

Primary dysmenorrhoea-
The main symptom of dysmenorrhea is pain centering in the lower abdomen, which may radiate to the thighs and lower back. Other symptoms may include nausea and vomiting, diarrhea, headache, and fatigue. Symptoms of dysmenorrhea usually begin a few hours before the start of menstruation, and may continue for a few days.
In one research study using MRI, visible features of the uterus were compared in dysmenorrheic and eumenorrheic (normal) participants. The study concluded that in dysmenorrheic patients, visible features on cycle days 1-3 correlated with the degree of pain, and differed significantly from the control group.
Several nutritional supplements have been indicated as effective in treating dysmenorrhea, including omega-3 fatty acids, magnesium, vitamin E, zinc, and thiamine (vitamin B1).
Research indicates that one mechanism underlying dysmenorrhea is a disturbed balance between antiinflammatory, vasodilator eicosanoids derived from omega-3 fatty acids, and proinflammatory, vasoconstrictor eicosanoids derived from omega-6 fatty acids. Several studies have indicated that intake of omega-3 fatty acids can reverse the symptoms of dysmenorrhea, by decreasing the amount of omega-6 FA in cell membranes. The richest dietary source of omega-3 fatty acids is found in flax oil.
Oral intake of magnesium has also been indicated in providing relief: two double-blind, placebo-controlled studies demonstrated a positive therapeutic effect of magnesium on dysmenorrhea. A randomized, double-blind, controlled trial demonstrated that oral intake of vitamin E relieves the pain of primary dysmenorrhea and reduces blood loss. A review of case histories indicated that zinc, in 1 to 3 30-milligram doses given daily for one to four days prior to onset of menses, prevents essentially all to all warning of menses and all menstrual cramping. Intake of thiamine (vitamin B1) was demonstrated to provide "curative" relief in 87% of females experiencing dysmenorrhea, in a controlled study.

Secondary dysmenorrhoea-
The symptoms of secondary dysmenorrhea vary with the underlying cause, but are similar to those of primary dysmenorrhea. While the symptoms of primary dysmenorrhea are generally limited to the time around menses, in secondary dysmenorrhea, they may extend further through the menstrual cycle.
The most effective treatment of secondary dysmenorrhea is the identification and treatment of the underlying cause of the pain. The first line of treatment is medical; if possible, the underlying medical disorder or anatomic abnormality is corrected. Dilation of a narrow cervical os may give 3 to 6 months of relief, and allows diagnostic curettage if needed. Myomectomy, polypectomy, or dilation and curettage may be needed. In patients with adenomyosis, the levonorgestrel intrauterine system (Mirena) was observed to provide relief.

Dyslexia

Dyslexia is a learning disability that manifests primarily as a difficulty with written language, particularly with reading and spelling. It is separate and distinct from reading difficulties resulting from other causes, such as a non-neurological deficiency with vision or hearing, or from poor or inadequate reading instruction.

Evidence suggests that dyslexia results from differences in how the brain processes written and/or verbal language. Although dyslexia is the result of a neurological difference, it is not an intellectual disability. Dyslexia occurs at all levels of intelligence; sub-average, average, above average, and highly gifted.

According to the findings of a University of Hong Kong study, dyslexia affects different structural parts of children's brains depending on the language they read. The study focused on comparing children that were raised reading English and children raised reading Chinese. Using MRI technology researchers found that the children reading English used a different part of the brain than those reading Chinese. Researchers were surprised by this discovery and hope that the findings will help lead them to any neurobiological cause for dyslexia.

Causes:
A learning disability is a condition that produces a gap between someone's ability and his or her performance. Most people with dyslexia are of average or above-average intelligence, but read at levels significantly lower than expected. Other types of learning disabilities include attention difficulties, an inability to perform well at writing skills and an inability to perform well at math skills.

The cause of dyslexia seems to be a malfunction in certain areas of the brain concerned with language. The condition frequently runs in families.

Symptoms:
Dyslexia can be difficult to recognize before your child enters school, but some early clues may indicate a problem. If your young child begins talking late, adds new words slowly and has difficulty rhyming, he or she may be at increased risk of dyslexia.

Once your child is in school, dyslexia symptoms may become more apparent, including:

* The inability to recognize words and letters on a printed page.
* A reading ability level well below the expected level for the age of your child.

Children with dyslexia commonly have problems processing and understanding what they hear. They may have difficulty comprehending rapid instructions, following more than one command at a time or remembering the sequence of things. Reversals of letters (b for d) and a reversal of words are typical among children who have dyslexia. Reversals are also common for children age 6 and younger who don't have dyslexia. But with dyslexia, the reversals persist.

Children with dyslexia may fail to see (and occasionally to hear) similarities and differences in letters and words, may not recognize the spacing that organizes letters into separate words, and may be unable to sound out the pronunciation of an unfamiliar word.

Diagnosis:
Dyslexia diagnosis involves an evaluation of medical, cognitive, sensory-processing, educational and psychological factors. Your doctor may ask about your child's developmental and medical history as well as your family medical history.

Your doctor may also suggest that your child undergo:

* Vision, hearing and neurological evaluations. These evaluations can help determine whether another disorder may be causing or contributing to your child's poor reading ability.
* A psychological assessment. This can help determine whether social problems, anxiety or depression may be limiting your child's abilities.
* An evaluation of educational skills. Your child may take a set of educational tests and have the process and quality of his or her reading skills analyzed by an expert.

Treatment:
There's no known way to correct the underlying brain malfunction that causes dyslexia. Dyslexia treatment is by remedial education. Psychological testing will help your child's teachers develop a suitable remedial teaching program.

Multisensory approach
Teachers may use techniques involving hearing, vision and touch to improve reading skills. Helping a child use several senses to learn — for example, by listening to a taped lesson and tracing with a finger the shape of the letters used and the words spoken — can help him or her process the information. The most important teaching approach may be frequent instruction by a reading specialist who uses these multisensory methods of teaching.

You can help your child learn by reading to him or her often and helping your child pronounce letters and spell out words. If your child learns best by hearing new information first, listen to books on tape with him or her and then read the same story in written form together.

If your child has a severe reading disability, tutoring may involve several individual or small-group sessions each week, and progress may be slow. A child with severe dyslexia may never be able to read well and may need training for vocations that don't require strong reading skills. Children with milder forms of dyslexia often eventually learn to read well enough to succeed in school.

Dysentery

Dysentery (formerly known as flux or the bloody flux) is an infection of the digestive system that results in severe diarrhea containing mucus and blood in the feces and is typically the result of unsanitary water containing micro-organisms which cause significant inflammation of the intestinal lining. There are two major types of dysentery due to micro-organisms: amoebic dysentery, and bacillary dysentery mainly due to one of three bacteria (diaria). Dysentery can also be caused by certain medications; for example, some steroids can impact bowel movements.

Amoebic dysentery is caused by the amoeba Entamoeba histolytica. Amoebic dysentery is transmitted through contaminated food and water. From ingestion, the infecting organisms move into the intestines via the stomach. Amoebae spread by forming infective cysts which can be found in stools and spread if whoever touches them does not sanitize their hands. There are also free amoebae, or trophozoites, that do not form cysts.

Amoebic dysentery is well known as a "traveler's dysentery" because of its prevalence in developing nations, or "Montezuma's Revenge" although it is occasionally seen in industrialized countries. Liver infection, and subsequent amoebic abscesses can occur.

Bacillary dysentery is mostly commonly associated with three bacterial groups:
* Shigellosis is caused by one of several types of Shigella bacteria.
* Campylobacteriosis caused by any of the dozen species of Campylobacter that cause human disease.
* Salmonellosis caused by Salmonella enterica (serovar Typhimurium).

Symptoms:
Symptoms include frequent passage of feces/stool, loose motion and in some cases associated vomiting. Variations depending on parasites can be frequent urge with high or low volume of stool, with or without some associated mucus and even blood.

Once recovery starts, early refeeding is advocated avoiding foods containing lactose due to temporary lactose intolerance.

Treatment:
The first and main task in managing any episode of dysentry is to maintain fluid intake using oral rehydration therapy. If this can not be adequately maintained, either through nausea and vomiting or the profuseness of the diarrhea, then hospital admission may be required for intravenous fluid replacement. Ideally no antimicrobial therapy is started until microbiological microscopy and culture studies have established the specific infection involved. Where laboratory services are lacking, it may be required to initiate a combination of drugs including an amoebicidal drug to kill the parasite and an antibiotic to treat any associated bacterial infection.

Amoebic dysentery can be treated with metronidazole. Mild cases of bacillary dysentry are often self-limiting and do not require antibiotics, which are reserved for more severe or persisting cases; campylobacter, shigella and salmonella respond to ciprofloxacin or macrolide antibiotics.

Dwarfism

Dwarfism refers to a condition in individual plants or animals characterized by extreme small size. In older popular and medical usage, any type of marked human smallness could also be termed dwarfism. The term as related to human beings (the major subject of this article) is often used to refer specifically to those forms of extreme shortness characterized by disproportion of body parts, typically due to an inheritable disorder in bone or cartilage development.

Forms of extreme shortness in humans characterized by proportional body parts usually have a hormonal or nutritional cause. An example is growth hormone deficiency, once known as "pituitary dwarfism".

The Little People of America (LPA) defines dwarfism as a medical or genetic condition that usually results in an adult height of 4'10" (147 cm) or shorter.

Types:
* rhizomelic = root, e.g. bones of upper arm or thigh.
* mesomelic = middle, e.g. bones of forearm or lower leg.
* acromelic = end, e.g. bones of hands and feet.

When the cause of dwarfism is understood, it may be classified according to one of hundreds of names, which are usually permutations of the following roots:

* chondro = of cartilage.
* osteo = of bone.
* spondylo = of the vertebrae.
* plasia = form.
* trophy = growth.

Examples include achondroplasia, osseous dysplasia, chondrodystrophy, and osteochondrodystrophy.

The most recognizable and most common form of dwarfism is achondroplasia, which produces rhizomelic short limbs, increased spinal curvature, and distortion of skull growth. It accounts for 70% of dwarfism cases. Other relatively common types include spondyloepiphyseal dysplasia congenita (SED), diastrophic dysplasia, pseudoachondroplasia, hypochondroplasia, and osteogenesis imperfecta (OI). Severe shortness with skeletal distortion also occurs in several of the mucopolysaccharidoses and other storage diseases.

The average adult height of male and females with dwarfism is 132 cm and 123 cm respectively. The average weight of an adult may range from 100 to 150 pounds (45-68 kg).

Causes:
Most dwarfism-related conditions are genetic disorders, but the causes of some disorders are unknown. Most occurrences of dwarfism result from a random genetic mutation in either the father's sperm or the mother's egg — rather than being in one of the parent's complete genetic makeup.

Achondroplasia
For example, about 80 percent of people with achondroplasia are born to parents of average height. A person with achondroplasia and with two average-size parents received one mutated copy of the gene associated with the disorder and one normal copy of the gene. A person with the disorder may pass along either a mutated or normal copy to his or her own children.

Turner syndrome
Turner syndrome occurs because of a random deletion or severe alteration of an X chromosome, either in the sperm or egg. (The X chromosome is one of two chromosomes that determine the sex of a person. A female inherits an X chromosome from each parent, and a male inherits a Y chromosome from his father and an X chromosome from his mother.) A girl with Turner syndrome has only one fully functioning copy of the female sex chromosome rather than two.

Growth hormone deficiency
The cause of growth hormone deficiency can sometimes be traced to a genetic mutation or injury, but for most people with the disorder, no cause can be identified.

Other causes of dwarfism include deficiencies in other hormones and poor nutrition.

Symptoms:
More than 200 different medical conditions cause dwarfism. Therefore, dwarfism symptoms — other than short stature — vary considerably across the spectrum of disorders. In general, the disorders are divided into two broad categories.

Disproportionate dwarfism- If body size is disproportionate, some parts of the body are small and others are of average size or above-average size. Disorders causing disproportionate dwarfism inhibit the development of bones.
Proportionate dwarfism- A body is proportionately small if all parts of the body are small to the same degree and appear to be proportioned like a body of average stature.

Disproportionate dwarfism
Most people with dwarfism have disorders that cause disproportionately short stature. Usually, this means that a person has an average-size trunk and very short limbs, but some people may have a very short trunk and shortened (but disproportionately large) limbs. The other common characteristic of these disorders is the head being disproportionately larger than the body.

Almost all people with disproportionate dwarfism have normal intellectual capacities. Rare exceptions are usually the result of a secondary factor, such as excess fluid in the brain (hydrocephalus).

About 70 percent of all people with dwarfism have a disorder called achondroplasia, which causes disproportionately short stature. This disorder usually results in:

* An adult height of approximately 4 feet.
* An average-size trunk.
* Short arms and legs, with particularly short upper arms and legs.
* Short fingers, often with a wide separation between the middle and ring fingers.
* Limited mobility at the elbows.
* A disproportionately large head, with a prominent forehead and flattened bridge of the nose.
* Progressive development of bowed legs (genu varum).
* Progressive development of swayed lower back (lordosis).

A disorder called spondyloepiphyseal dysplasia congenita (SEDC), while rare, is the most common cause of disproportionate dwarfism with a short trunk. Signs and symptoms may include:

* Adult height ranging from 3 feet to just over 4 feet.
* A very short trunk, which may or may not be apparent in infancy.
* A short neck.
* Shortened arms and legs.
* Average-size hands and feet.
* Slightly flattened cheek bones.
* Hip deformities that result in thigh bones turning inward (coxa vara).
* Feet twisted or out of shape (clubfoot).
* Progressive hunching curvature of the upper spine (kyphoscoliosis).
* Progressive development of lordosis.
* Vision and hearing problems.

Proportionate dwarfism
Proportionate dwarfism results from medical conditions present at birth or during early childhood that limit overall growth and development. Therefore, the head, trunk and limbs are all small but of average proportions relative to each other.

Most of these disorders are uncommon, and signs and symptoms of the disorders vary greatly. Because these disorders affect overall growth, many of them result in poor development of one or more body systems. A few disorders causing proportionate dwarfism result in mental retardation.

Growth hormone deficiency is a relatively common cause of proportionate dwarfism. It occurs when the pituitary gland fails to produce an adequate supply of growth hormone, which is essential for regular childhood growth. Signs and symptoms include:

* Height below the fifth percentile on standard pediatric growth charts.
* Slowed growth before age 5.
* Periods of little or no change in height.
* Adult height usually less than 5 feet.
* Delayed or no sexual development during adolescence.

Turner syndrome, also relatively common, is a disorder that results in short stature and impaired sexual maturation in females. Signs and symptoms of the disorder may include:

* An average adult height of 4 feet 8 inches.
* Undeveloped ovaries.
* Excess skin at the neck at birth that usually becomes less noticeable over time.
* Puffy hands and feet at birth and during infancy.
* Heart and blood vessel defects.
* Kidney problems.
* No development of breasts or onset of menstruation during adolescence.
* Infertility.
* Possible difficulty with intellectual tasks dependent on visualizing objects in relation to one another.

Diagnosis:
Your pediatrician will examine a number of factors in order to assess your child's growth and determine if he or she has a dwarfism-related disorder. For some assessments, your pediatrician may refer you to other doctors, such as pediatricians specializing in bone abnormalities (orthopedics) or hormone dysfunction (endocrinology).

Measurements- A regular part of a well-baby medical examination is the measurement of height, weight and head circumference. At each visit, your pediatrician will plot these measurements on a chart, which indicates the percentile ranking for each measurement and expected growth curve in the future. This information is important for identifying abnormal growth, such as delayed growth or a disproportionately large head. If any trends in these charts are a concern, your pediatrician may make more frequent measurements over a period of several months.
Appearance- Many distinct facial and skeletal features are associated with each of several dwarfism disorders. Therefore, your child's appearance may also assist your pediatrician in making a diagnosis.
Imaging technology- Your doctor may order radiographic studies, such as X-rays, because certain abnormalities of the skull and skeleton can indicate which disorder your child may have. Various imaging devices may also reveal delayed maturation of bones, as is the case in growth hormone deficiency. A magnetic resonance imaging (MRI) scan may reveal abnormalities of the pituitary gland or hypothalamus, both of which play a role in hormone function.
Genetic tests- Genetic tests are available for many of the known causal genes of dwarfism-related disorders, but these tests often aren't necessary to make an accurate diagnosis. Your doctor is likely to suggest a test only to distinguish among possible diagnoses when other evidence is unclear or as a part of further family planning. If your pediatrician believes your daughter may have Turner syndrome, then he or she will order special laboratory tests that assess the state of X chromosomes extracted from blood cells.
Family history- Your pediatrician may take a history of stature in siblings, parents, grandparents or other relatives to help determine whether the average range of height in your family includes short stature.
Hormone tests- Your doctor may order tests that assess levels of growth hormone or other hormones that are critical for childhood growth and development.

Treatment:
Most dwarfism treatments don't increase stature but may alleviate problems caused by complications.

Common surgical treatments
Surgical procedures that may correct problems with bones in people with disproportionate dwarfism include:

* Inserting metal staples into the ends of long bones where growth occurs (growth plates) in order to correct the direction in which bones are growing.
* Dividing a limb bone, straightening it and inserting metal plates to hold it in place.
* Inserting rods or staples to help correct the shape of the spine.
* Increasing the size of the opening in bones of the spine (vertebrae) to alleviate pressure on the spinal cord.

Limb lengthening
Some people with dwarfism elect to undergo limb-lengthening surgery. With this procedure, the surgeon divides a long bone into two or more sections, separates the sections slightly and braces the bone and limb with metal "scaffolding." Pins and screws on this frame are adjusted to keep tension between the sections, enabling the bone to grow back together gradually into a complete but longer bone.

This procedure is controversial for many people with dwarfism because, as with all surgeries, there are risks, and because the "correction" in stature may imply there's something wrong with being short.

Hormone therapy
Growth hormone deficiency is treated with injections of a synthetic version of the hormone. Most children receive daily injections for several years until they reach a maximum adult height — often within the average adult range for one's family. Treatment may continue throughout adolescence and early adulthood to ensure adult maturation, such as appropriate gain in muscle or fat. The treatment may be supplemented with other related hormones if they are also deficient.

Treatment for Turner syndrome usually begins in the preteen years with small doses of a male hormone (androgen) and a female hormone (estrogen) to increase height. A second course of treatment with estrogen and another female hormone (progesterone) will occur in the early teen years to promote breast development and sexual maturation. Adult women usually use a hormone therapy until the average age for the onset of menopause.

Down Syndrome

Down syndrome is a genetic disorder that causes mental retardation and other problems. The condition varies in severity, so developmental problems may range from mild to serious.

Down syndrome is the most common genetic cause of severe learning disabilities in children, occurring in one in every 700 infants. Every year, as many as 6,000 babies are born with Down syndrome in the United States. The condition is named after John Langdon Down, the doctor who first identified the syndrome.

There's no medical cure for this condition. But increased understanding of Down syndrome and early interventions make a big difference in the lives of both children and adults with Down syndrome.

Causes:
Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.

The cause of Down syndrome is one of three types of abnormal cell division involving the 21st chromosome. All three abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of Down syndrome. The three genetic variations that can cause Down syndrome include:

Trisomy 21- More than 90 percent of cases of Down syndrome are caused by trisomy 21. A child with trisomy 21 has three copies of chromosome 21 — instead of the usual two copies — in all of his or her cells. This form of Down syndrome is caused by abnormal cell division during the development of the sperm cell or the egg cell.
Mosaic Down syndrome- In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21, but not all. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
Translocation Down syndrome- Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. Children with translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 stuck to the translocated chromosome. This form of Down syndrome is uncommon.

Symptoms:
Children with Down syndrome have a distinct facial appearance. Though not all children with Down syndrome have the same features, some of the more common features are:

* Flattened facial features.
* Protruding tongue.
* Small head.
* Upward slanting eyes, unusual for the child's ethnic group.
* Unusually shaped ears.

Children with Down syndrome may also have:

* Poor muscle tone.
* Broad, short hands with a single crease in the palm.
* Relatively short fingers.
* Excessive flexibility.

Infants born with Down syndrome may be of average size, but typically they grow slowly and remain smaller than other children of similar age. Children with Down syndrome also have some degree of mental retardation, ranging from mild to moderate.

Diagnosis:
Various screening tests can help identify whether you have a high risk of carrying a baby with Down syndrome. Blood tests, such as the quad screen, have typically been offered around the 16th week of pregnancy to screen for Down syndrome, spina bifida and various other chromosomal disorders. These tests are still available. But the most effective screening is done in two steps between the 11th and 14th week of pregnancy:

Ultrasound- The doctor uses ultrasound to measure a specific region on the back of a baby's neck. This is known as a nuchal translucency screening test. When abnormalities are present, more fluid than usual tends to collect in this tissue.

Blood tests- Results of the ultrasound are paired with blood tests that measure levels of pregnancy-associated plasma protein-A (PAPP-A) and a hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.

Diagnostic tests during pregnancy
If your screening tests are positive or worrisome or you're at high risk of having a baby with Down syndrome, you might consider further testing to confirm the diagnosis. Diagnostic tests that can identify Down syndrome include:

Amniocentesis- A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test after 15 weeks of gestation. The test carries a risk of miscarriage of one in 200.
Chorionic villus sampling (CVS)- Cells taken from the mother's placenta can be used to analyze the fetal chromosomes. Typically performed between the ninth and 14th week of pregnancy, this test carries a risk of miscarriage of one in 100.
Percutaneous umbilical blood sampling (PUBS)- Blood is taken from a vein in the umbilical cord and examined for chromosomal defects. Doctors generally perform this test after 18 weeks of gestation. This test carries a greater risk of miscarriage than does amniocentesis or chorionic villus sampling. Generally, this test is only done when speed of diagnosis is essential.

Each of these three tests is 98 percent to 99 percent accurate in diagnosing Down syndrome before birth.

Treatment:
There's no medical treatment for Down syndrome that will provide a cure. But children with Down syndrome do benefit from medical help and early interventions, starting in infancy.

If your child has Down syndrome, you'll likely become acquainted with a team of doctors that may include a pediatric cardiologist, a gastroenterologist, a developmental pediatrician and other specialists. These doctors can detect and treat complications of Down syndrome, such as heart defects, gastrointestinal problems and hearing problems.

Your child's care team may also include a physical therapist, speech pathologist, occupational therapist and others. These specialists can help your child develop skills as fully as possible. For example, babies with Down syndrome don't have good muscle tone, so a physical therapist can help your baby learn to roll over, sit up and walk. Meanwhile, a speech pathologist or occupational therapist may help with feeding, hand coordination and language skills.

Ask your doctor about early intervention programs available in your area. These specialized programs — in which children with Down syndrome are stimulated at an early age with appropriate sensory, motor and cognitive activities — are available in most states. Programs vary from location to location, but they usually involve therapists and special educators whose goal is to help your baby develop motor skills, language, social skills and self-help skills.

In general, children with Down syndrome usually meet developmental milestones, but it may take them a little longer than it does for children without Down syndrome. For example, children with Down syndrome may take twice as long to sit, crawl, walk or say a first word. However, early intervention programs, started as soon as possible, may give kids with Down syndrome the best chance of success.