Triple-A syndrome or AAA syndrome, also known as achalasia-addisonianism-alacrima syndrome or Allgrove syndrome, is a rare autosomal recessive congenital disorder. In most cases, there is no family history of it. The syndrome was first identified by Jeremy Allgrove and colleagues in 1978. The syndrome involves achalasia, addisonianism (adrenal insufficiency of primary type), and alacrima (insufficiency of tears). Alacrima is usually the earliest manifestation. It is a progressive disorder that can take years to develop the full blown clinical picture.

Triple-A syndrome is associated with mutations in the "AAAS" gene, which encodes a protein known as ALADIN (ALacrima Achalasia aDrenal Insufficiency Neurologic disorder). In 2000, Huebner "et al." mapped the syndrome to a 6 cM interval on human chromosome 12q13 near the type II keratin gene cluster. Since inheritance and gene for the association is known, early diagnosis can allow genetic counseling.

The Ulaş family of nineteen from rural southern Turkey has been the primary example of the proposed syndrome. Tan described five members as walking with a quadrupedal gait using their feet and the palms of their hands. In infants, where this is a rare but a normal stage prior and sometimes following bipedal walking, such a gait is called "bear crawl". The affected family members are also severely mentally retarded and their speech is affected. Tan proposed that these are symptoms of Uner Tan syndrome.

In January 2008, Tan reported on another family (four males and two females) located in southern Turkey.

Four other unrelated cases in families are described as having various degrees of UTS. Males may be affected more than females. It is also claimed that some individuals are unaware of time, lack language, have severe mental retardation with no conscious experience, and communicate by using sounds. Two males are unable to stand up, while in other cases, can stand up but cannot make a step when standing. Less severe cases use toe walking, which is a normal phase in child gait development.

Uner Tan syndrome, Unertan syndrome or UTS is a syndrome proposed by the Turkish evolutionary biologist Üner Tan. According to Tan, persons affected by this syndrome walk with a quadrupedal locomotion and are afflicted with "primitive" speech and severe mental retardation. Tan postulated that this is an example of "reverse

For more severe disease, oral corticosteroids may be necessary to reduce the inflammatory response. When large amounts of steroids are required or if the disease is severe and is not responding to steroid therapy, other immunosuppressive medications often are recommended. These immunosuppressive drugs include methotrexate, cyclophosphamide, cyclosporine or azathioprine. In some cases, combinations of these medicines are prescribed. Occasionally, if the disease has damaged blood vessels, cochlear implantation may

need to be done to correct the problem.

Cinnarizine is mainly used to treat nausea and vomiting associated with motion sickness, vertigo, Ménière's disease, or Cogan's syndrome. Studies have shown it to produce significant improvement in hearing loss in some patients.

Most birthmarks are harmless and do not require treatment. Pigmented marks can resolve on their own over time in some cases. Vascular birthmarks may require reduction or removal for cosmetic reasons. Treatments include administering oral or injected steroids, dermatological lasers to reduce size and/or color, or dermatologic surgery.

In most of the reported cases, the treatment options were very similar. Plasmapheresis alone or in combination with steroids, sometimes also with thymectomy and azathioprine, have been the most frequently used therapeutic approach in treating Morvan’s Syndrome. However, this does not always work, as failed response to steroids and to subsequently added plasmapheresis have been reported. Intravenous immunoglobulin was effective in one case.

In one case, the dramatic response to high-dose oral prednisolone together with pulse methylprednisolone with almost complete disappearance of the symptoms within a short period should induce consideration of corticosteroids.

In another case, the subject was treated with haloperidol (6 mg/day) with some improvement in the psychomotor agitation and hallucinations, but even high doses of carbamazepine given to the subject failed to improve the spontaneous muscle activity. Plasma Exchange (PE) was initiated, and after the third such session, the itching, sweating, mental disturbances, and complex nocturnal behavior improved and these symptoms completely disappeared after the sixth session, with improvement in insomnia and reduced muscle twitching. However, one month after the sixth PE session, there was a progressive worsening of insomnia and diurnal drowsiness, which promptly disappeared after another two PE sessions.

In one case there high dose steroid treatment resulted in a transient improvement, but aggressive immuno-suppressive therapy with cyclophosphamide was necessary to control the disease and result in a dramatic clinical improvement.

In another case, the subject was treated with prednisolone (1 mg/kg body weight) with carbamazepine, propanolol, and amitriptyline. After two weeks, improvement with decreased stiffness and spontaneous muscle activity and improved sleep was observed. After another 7–10 days, the abnormal sleep behavior disappeared completely.

In another case, symptomatic improvement with plasmapheresis, thymectomy, and chronic immunosuppression provide further support for an autoimmune or paraneoplastic basis.

Although thymectomy is believed to be a key element in the proposed treatment, there is a reported case of Morvan’s Syndrome presenting itself post-thymectomy.

It is currently thought that Cogan's syndrome is an autoimmune disease. The inflammation in the eye and ear are due to the patient's own immune system producing antibodies that attack the inner ear and eye tissue. Autoantibodies can be demonstrated in the blood of some patients, and these antibodies have been shown to attack inner ear tissue in laboratory studies. Infection with the bacteria "Chlamydia pneumoniae" has been demonstrated in some patients prior to the development of Cogan's syndrome, leading some researchers to hypothesize that the autoimmune disease may be initiated by the infection. "C. pneumoniae" is a common cause of mild pneumonia, and the vast majority of patients who are infected with the bacteria do not develop Cogan's syndrome.

There are only about 14 reported cases of Morvan's syndrome in the English Literature. With only a limited number of reported cases, the complete spectrum of the Central Nervous System (CNS) symptomatology has not been well established. The natural history of Morvan’s is highly variable. Two cases have been reported to remit spontaneously. Others have required a combination of plasmapheresis and long term immunosuppression, although in one of these cases the patient died shortly after receiving plasma exchange (PE). Other fatalities without remission have been described by, amongst others, Morvan himself.

Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness. In addition to the congenital ocular symptoms, some patients suffer from a progressive hearing loss starting mostly in their 2nd decade of life, and some may have learning difficulties.

Patients with Norrie disease may develop cataracts, leukocoria (a condition where the pupils appear white when light is shone on them), along with other developmental issues in the eye, such as shrinking of the globe and the wasting away of the iris. Around 30 to 50% of them will also have developmental delay/learning difficulties, psychotic-like features, incoordination of movements or behavioral abnormalities. Most patients are born with normal hearing; however, the onset of hearing loss is very common in early adolescence. About 15% of patients are estimated to develop all the features of the disease.

The disease affects almost only male infants, because the disease is inherited X-linked recessive. Only in very rare cases, females have been diagnosed with Norrie disease as well. The exact incidence number is unknown; only a few hundred cases have been reported. It is a very rare disorder that is not associated with any specific ethnic or racial groups.

A birthmark is a congenital, benign irregularity on the skin which is present at birth or appears shortly after birth, usually in the first month. They can occur anywhere on the skin. Birthmarks are caused by overgrowth of blood vessels, melanocytes, smooth muscle, fat, fibroblasts, or keratinocytes.

Dermatologists divide birthmarks into two types. Pigmented birthmarks caused by excess skin pigment cells include moles, café au lait spots, and Mongolian spots. Vascular birthmarks, also called red birthmarks, are caused by increased blood vessels and include macular stains (salmon patches), hemangiomas, and Port-wine stains. A little over 1 in 10 babies have a vascular birthmark present by age 1. Several birthmark types are part of the group of skin lesions known as nevi or naevi, which means "birthmarks" in Latin.

The exact cause of most birthmarks is unknown, but they are thought to occur as a result of a localized imbalance in factors controlling the development and migration of skin cells. In addition, it is known that vascular birthmarks are not hereditary.

Cystocele may be mild enough not to result in symptoms that are troubling to a woman. In this case, steps to prevent it from getting worse.These are:

- smoking cessation

- losing weight

- pelvic floor strengthening

- treatment of a chronic cough

- maintaining healthy bowel habits

- eating high fiber foods

- avoiding constipation and straining

Dentin dysplasia (DD) is a rare genetic developmental disorder dentine production of the teeth, commonly exhibiting an autosomal dominant inheritance that causes malformation of the root. It affects both primary and permanent dentitions in approximately 1 in every 100,000 patients. It is characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. Witkop in 1972 classified DD into two types which are Type I (DD-1) is the radicular type, and type II (DD-2) is the coronal type. DD-1 has been further divided into 4 different subtypes (DD-1a,1b,1c,1d) based on the radiographic features.

Leucism (; or ) is a condition in which there is partial loss of pigmentation in an animal resulting in white, pale, or patchy coloration of the skin, hair, feathers, scales or cuticle, but not the eyes. Unlike albinism, it is caused by a reduction in multiple types of pigment, not just melanin.

Dental implant is one of the treatment options that can be considered when growth is fully attained. For patients who experience maxillo-mandibular alveolar atrophy due to early loss of teeth, alveolar ridge augmentation procedure is recommended prior to the implant placement. Both onlay bone grafting and sinus lift techniques can be carried out together to accomplish implant placement.

The precise causes of syringomyelia are still unknown although blockage to the flow of cerebrospinal fluid has been known to be an important factor since the 1970s. Scientists in the UK and America continue to explore the mechanisms that lead to the formation of syrinxes in the spinal cord. It has been demonstrated a block to the free flow of cerebrospinal fluid is a contributory factor in the pathogenesis of the disease. Duke University in America and Warwick University are conducting research to explore genetic features of syringomyelia.

Surgical techniques are also being refined by the neurosurgical research community. Successful procedures expand the area around the cerebellum and spinal cord, thus improving the flow of cerebrospinal fluid thereby reducing the syrinx.

It is also important to understand the role of birth defects in the development of hindbrain malformations that can lead to syringomyelia as syringomyelia is a feature of intrauterine life and is also associated with spina bifida. Learning when these defects occur during the development of the fetus can help us understand this and similar disorders, and may lead to preventive treatment that can stop the formation of some birth abnormalities. Dietary supplements of folic acid prior to pregnancy have been found to reduce the number of cases of spina bifida and are also implicated in prevention of cleft palate and some cardiac defects.

Diagnostic technology is another area for continued research. MRI has enabled scientists to see conditions in the spine, including syringomyelia before symptoms appear. A new technology, known as dynamic MRI, allows investigators to view spinal fluid flow within the syrinx. CT scans allow physicians to see abnormalities in the brain, and other diagnostic tests have also improved greatly with the availability of new, non-toxic, contrast dyes.

Hydatidiform moles should be treated by evacuating the uterus by uterine suction or by surgical curettage as soon as possible after diagnosis, in order to avoid the risks of choriocarcinoma. Patients are followed up until their serum human chorionic gonadotrophin (hCG) level has fallen to an undetectable level. Invasive or metastatic moles (cancer) may require chemotherapy and often respond well to methotrexate. As they contain paternal antigens, the response to treatment is nearly 100%. Patients are advised not to conceive for half a year after hCG levels have normalized. The chances of having another molar pregnancy are approximately 1%.

Management is more complicated when the mole occurs together with one or more normal fetuses.

The uterine curettage is generally done under the effect of anesthesia, preferably spinal anesthesia in hemodynamically stable patients. The advantages of spinal anesthesia over general anesthesia include ease of technique, favorable effects on the pulmonary system, safety in patients with hyperthyroidism and non-tocolytic pharmacological properties. Additionally, by maintaining patient’s consciousness one can diagnose the complications like uterine perforation, cardiopulmonary distress and thyroid storm at an earlier stage than when the patient is sedated or is under general anesthesia.

Leucism (occasionally spelled "leukism") is a general term for the phenotype resulting from defects in pigment cell differentiation and/or migration from the neural crest to skin, hair, or feathers during development. This results in either the entire surface (if all pigment cells fail to develop) or patches of body surface (if only a subset are defective) having a lack of cells capable of making pigment.

Since all pigment cell-types differentiate from the same multipotent precursor cell-type, leucism can cause the reduction in all types of pigment. This is in contrast to albinism, for which leucism is often mistaken. Albinism results in the reduction of melanin production only, though the melanocyte (or melanophore) is still present. Thus in species that have other pigment cell-types, for example xanthophores, albinos are not entirely white, but instead display a pale yellow colour.

More common than a complete absence of pigment cells is localized or incomplete hypopigmentation, resulting in irregular patches of white on an animal that otherwise has normal colouring and patterning. This partial leucism is known as a "pied" or "piebald" effect; and the ratio of white to normal-coloured skin can vary considerably not only between generations, but between different offspring from the same parents, and even between members of the same litter. This is notable in horses, cows, cats, dogs, the urban crow and the ball python but is also found in many other species.

A further difference between albinism and leucism is in eye colour. Due to the lack of melanin production in both the retinal pigmented epithelium (RPE) and iris, those affected by albinism typically have red eyes due to the underlying blood vessels showing through. In contrast, most leucistic animals have normally coloured eyes. This is because the melanocytes of the RPE are not derived from the neural crest, instead an outpouching of the neural tube generates the optic cup which, in turn, forms the retina. As these cells are from an independent developmental origin, they are typically unaffected by the genetic cause of leucism.

Genes that, when mutated, can cause leucism include, "c-kit", "mitf" and "EDNRB.

Surgery is not always recommended for syringomyelia patients. For many patients, the main treatment is analgesia. Physicians specializing in pain management can develop a medication and treatment plan to ameliorate pain. Medications to combat any neuropathic pain symptoms such as shooting and stabbing pains (e.g. gabapentin or pregabalin) would be first-line choices. Opiates are usually prescribed for pain for management of this condition. Facet injections are not indicated for treatment of syringomyelia.

Drugs have no curative value as a treatment for syringomyelia. Radiation is used rarely and is of little benefit except in the presence of a tumor. In these cases, it can halt the extension of a cavity and may help to alleviate pain.

In the absence of symptoms, syringomyelia is usually not treated. In addition, a physician may recommend not treating the condition in patients of advanced age or in cases where there is no progression of symptoms. Whether treated or not, many patients will be told to avoid activities that involve straining.

Since the natural history of syringomyelia is poorly understood, a conservative approach may be recommended. When surgery is not yet advised, patients should be carefully monitored. Periodic MRI's and physical evaluations should be scheduled at the recommendation of a qualified physician.

Risk factors for developing a cystocele are:

- an occupation involving or history of heavy lifting

- pregnancy and childbirth

- chronic lung disease/smoking

- family history of cystocele

- exercising incorrectly

- ethnicity (risk is greater for Hispanic and whites)

- hypoestrogenism

- pelvic floor trauma

- connective tissue disorders

- spina bifida

- hysterectomy

- cancer treatment of pelvic organs* childbirth; correlates to the number of births

- forceps delivery

- age

- chronically high intra-abdominal pressures

- chronic obstructive pulmonary disease

- constipation

- obesity

Connective tissue disorders predispose women to developing cystocele and other pelvic organ prolapse. The tensile strength of the vaginal wall decreases when the structure of the collagen fibers change and become weaker.

Morton's Toe is a minority variant of foot shape. Its recorded prevalence varies in different populations, with estimates from 2.95% to 22%.

Sweating causes lesions to form, but lesions aggravated by sweat usually return to "normal" fairly quicklyavoiding sweat is not a reason to avoid exercise. Minor outbreaks can be controlled with prescription strength topical cortisone creams. More severe eruptions usually clear up after treatment for one to three months with Accutane or tetracycline. If these fail or the outbreak is severe, PUVA phototherapy treatments, antifungal pills and cortisone injections are alternatives.

Some research has suggested a correlation of Grover's disease with mercury toxicity in which case Dimercaptosuccinic acid might help.

Norrie disease and other NDP related diseases are diagnosed with the combination of clinical findings and molecular genetic testing. Molecular genetic testing identifies the mutations that cause the disease in about 85% of affected males. Clinical diagnoses rely on ocular findings. Norrie disease is diagnosed when grayish-yellow fibrovascular masses are found behind the eye from birth through three months. Doctors also look for progression of the disease from three months through 8–10 years of age. Some of these progressions include cataracts, iris atrophy, shallowing of anterior chamber, and shrinking of the globe. By this point, people with the condition either have only light perception or no vision at all.

Molecular genetic testing is used for more than an initial diagnosis. It is used to confirm diagnostic testing, for carrier testing females, prenatal diagnosis, and preimplantation genetic diagnosis. There are three types of clinical molecular genetic testing. In approximately 85% of males, mis-sense and splice mutations of the NDP gene and partial or whole gene deletions are detected using sequence analysis. Deletion/duplication analysis can be used to detect the 15% of mutations that are submicroscopic deletions. This is also used when testing for carrier females. The last testing used is linkage analysis, which is used when the first two are unavailable. Linkage analysis is also recommended for those families who have more than one member affected by the disease.

On MRI the retinal dysplasia that occurs with the syndrome can be indistinguishable from persistent hyperplastic primary vitreous, or the dysplasia of trisomy 13 and Walker–Warburg syndrome.

A monstrous birth, variously defined in history, is a birth in which a defect of some sort renders the animal or human child monstrous. Such births were often taken as omens, signs of God, or moral warnings, but besides these supernatural or religious explanations, medical explanations were also given, in which often the mother's state of mind or her sexual behavior was responsible for the deformed fetus. In early and medieval Christianity, monstrous births posed difficult theological problems about humanity and salvation; in the early modern period the interest shifted toward scientific inquiry.