Disease – Page 123 – CheckOrphan

Macular dystrophy- atypical vitelliform

A rare inherited eye disorder that involves the development of small yellow lesions in the macula.

Macular dystrophy- concentric annular

A rare genetic eye disorder characterized by the development of a pigmented ring around a central area that appears normal. It is a relatively benign disorder with vision impairment generally occurring later in life

Macular dystrophy- corneal type 1

A rare genetic eye disease that affects the cornea. The condition is progressive.

Macular dystrophy- retinal- 1- North Carolina type

A rare genetic eye disorder that affects the central part of the retina (macula).

Macules hereditary congenital hypopigmented and hyperpigmented

A rare inherited genetic disorder involving small flat areas increased and decreased skin pigmentation

Madelung’s disease

A rare disorder involving defective fat metabolism which leads to a buildup of fat deposits in neck and shoulder area. Mainly occurs in male alcoholics.

Madokoro Ohdo Sonoda syndrome

A rare disorder characterized by the absence of all four limbs, an unusual face and retarded development.

Maffucci syndrome

Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple simple or cavernous soft tissue hemangiomas. Also lymphangiomas may be apparent.

Majeed syndrome

A rare syndrome characterized by blood abnormality and recurring bone infections.

Mal de debarquement

Mal de debarquement (or Mal de débarquement) syndrome (MdDS, or common name disembarkment syndrome) is a rare neurological condition usually occurring after a cruise, aircraft flight, or other sustained motion event. The phrase "mal de débarquement" is French for "Sickness from Disembarkation". MdDS is typically diagnosed by a Neurologist or an Ear Nose & Throat Specialist when a person reports a persistent rocking, swaying, or bobbing feeling (though they are not necessarily rocking). This usually follows a cruise or other motion experience. Because most vestibule testing proves to be negative, doctors may be baffled as they attempt to diagnose this rare neurological syndrome. A major diagnostic indicator is that most patients feel better while driving or riding in a car or while in passive motion. The syndrome has recently received increased attention due to the number of people presenting with the condition and more scientific research has commenced now for a number of years to determine what triggers MdDs and how to cure it.

Malakoplakia

Malakoplakia is a rare inflammatory condition which makes its presence known as a papule, plaque or ulceration that usually affects the genitourinary tract. However, it may also be associated with other bodily organs. It was initially described in the early 1900s as soft yellowish plaques found on the mucosa of the urinary bladder. Microscopically it is characterized by the presence of foamy histiocytes with basophilic inclusions called Michaelis-Gutmann bodies.

Malaria

Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Malaria produces recurrent attacks of chills and fever.

While the disease is uncommon in temperate climates, malaria is still prevalent in tropical and subtropical countries, including parts of the Americas, Asia, and Africa. Each year, there are approximately 515 million cases of malaria, killing an estimated 660,000 people each year, the majority of whom are young children in Sub-Saharan Africa. Ninety percent of malaria-related deaths occur in Sub-Saharan Africa. Malaria is commonly associated with poverty, but is also a cause of poverty and a major hindrance to economic development. World health officials are trying to reduce the incidence of malaria by distributing bed nets to help protect people from mosquito bites as they sleep. Scientists around the world are working to develop a vaccine to prevent malaria.

Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly. Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.

If you're traveling to locations where malaria is common, take preventive medicine before, during and after your trip. Many malaria parasites are now immune to the most common drugs used to treat the disease.

Male pseudohermaphroditism due to defective LH molecule

A rare disorder where defective leutenizing hormone results in ambiguous external genitalia i.e. male genitals are incompletely masculinized resulting in genitals that look female are has characteristics of both male and female genitals.

Male pseudohermaphroditism/mental retardation syndrome- Verloes type

A syndrome characterised by multiple congenital abnormalities and mental retardation.

Malformations in neuronal migration

A rare disorder where the brain fails to develop normally - usually the cerebral cortex is involved. Various parts of the brain can be affected to various degrees depending on what stage of development the defect occurs. Mental retardation is one of the most common symptoms associated with brain malformations.

Malignant fibrous histiocytoma

Malignant fibrous histiocytoma (MFH, pleomorphic undifferentiated sarcoma, undifferentiated pleomorphic sarcoma) is a type of cancer that is the most common soft tissue sarcoma of late adult life, most commonly occurring between age 50-70. In rare cases MFH does occur in children, but it is usually in a less aggressive form. However, malignant tumors have occurred in children as young as 13. It occurs more often in caucasians than those of African or Asian descent. Its male:female predominance is 2:1.

Malignant germ cell tumor

Germ cell tumors develop from cells, called germ cells, that normally mature into eggs in the female ovaries and sperm in the male testes. About 90 percent of all germ cell tumors are gonadal, which means they develop within the ovaries and testes. The remaining 10 percent are extragonadal, which means they develop somewhere outside the gonads, usually the chest, lower back, and head. Germ cell tumors can be benign (noncancerous) or malignant (cancerous).

Malignant hyperthermia

Malignant hyperthermia (MH, malignant hyperpyrexia) is a rare life-threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia — specifically the volatile anesthetic agents and succinylcholine, a neuromuscular blocking agent. In susceptible individuals, these drugs can induce a drastic and uncontrolled increase in oxidative metabolism in skeletal muscle, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature, eventually leading to circulatory collapse and death if not immediately treated.

Malignant hyperthermia arthrogryposis torticollis

A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.

Malignant hyperthermia susceptibility type 1

A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 1 is located at 19q13.1

Malignant hyperthermia susceptibility type 2

Malignant hyperthermia susceptibility type 3

Malignant hyperthermia susceptibility type 4

Malignant hyperthermia susceptibility type 5

Malignant hyperthermia susceptibility type 6

Malignant mesenchymomas

Malignant mesenchymomas are rare soft tissue tumors that contain two or more distinct histologic subtypes of sarcoma within the same tumor (exclusive of a fibrosarcomatous or hemangiopericytomatous component). They are generally considered high grade neoplasms and are associated with a poor prognosis, although experience with these tumors is limited.

Malignant mixed Mullerian tumor

A rare malignant cancer that develops in the uterus, ovary or fallopian tubes. The tumor contains epithelial and stromal cells. The cancer may be slow-growing or aggressive and may metastasize.

Malignant paroxysmal ventricular tachycardia

Malignant pleural mesothelioma

Malignant mesothelioma is a form of cancer that develops in the thin layer of tissue that surrounds the lungs (pleura), chest wall, or abdomen. Signs and symptoms of the condition can vary and often depend on which area of the body is affected. Common features include abdominal bloating, abdominal pain, chest pain, coughing, fatigue, shortness of breath, and/or weight loss.

Malignant mesothelioma is thought to be caused by long-term exposure to asbestos (a fire-resistant material that was once commonly found in insulation; ceiling and roof vinyls; cement; and automotive brake materials). Most people appear to be diagnosed with the condition approximately 30 years after being in contact with the asbestos. Unfortunately, there is generally no cure for malignant mesothelioma unless it is diagnosed at an early stage and can be surgically removed. If surgery is not an option, chemotherapy and/or radiation therapy may still be recommended to help alleviate some of the associated symptoms.

Malignant Teratocarcinosarcoma

A rare type of cancer that involves connective (bone, cartilage, fat) and epithelial (skin and lining of internal organs) tissue and tends to be of a large size. It often tends to occur in the nose, pharynx and sinus areas. Symptoms are determined by the size and location of the tumor.