Diseases

Maroteaux Fonfria syndrome

A rare congenital disorder characterized by extra little fingers and extra big toes as well as the normal features associated with Apert syndrome.

Maroteaux Verloes Stanescu syndrome

A very rare syndrome where abnormal bone development starts early in life and is fairly severe but after a few years, the bones return to almost normal. Adult height is nearly normal and bowed limbs usually straighten

Marsden Nyhan Sakati syndrome

A very rare syndrome characterized mainly by reduced parathyroid hormone level, low growth hormone level and other minor abnormalities.

Marsden syndrome

A rare disorder characterized by loss of vision and dystonia. It is believed to be a variant of Leber's atrophy associated with dystonia.

Marshall syndrome

A rare genetic disorder characterized by a distinctive face and vision and hearing impairment.

Marshall-Smith syndrome

The Marshall-Smith syndrome is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia

Martsolf syndrome

A rare inherited condition characterized by mental retardation, cataracts, small head and hypogonadism (reduced production of hormones by ovaries or testes)

MASA syndrome

A very rare inherited disorders characterized by mental retardation (M), aphasia (A), shuffling walk (S) and adducted thumbs (A). The symptoms are variable from case to case but mental retardation is a consistent feature

MASS syndrome

A genetic syndrome that is similar the Marfan syndrome but does not involve lens dislocation. It is a connective tissue disorder that involves the skeleton, skin, aorta and mitral valve.

Massa Casaer Ceulemans syndrome

A very rare syndrome characterized mainly by abnormal brain development (lissencephaly - smooth brain) and multiple joint contractures at birth.

Mast Cell Disease

Mast cell disease is a disorder where excessive amounts of mast cells proliferate in organs such as the skin, liver, bone, spleen and gastrointestinal tract. Mast cells occur in connective tissue and defend the body against disease by releasing histamine to stimulate the immune system.

Mastocytic enterocolitis

Mastocytic enterocolitis (entero=small intestine, colitis- colon + -itis= inflammation) is a newly discovered disorder defined by the presence of increased mast cells in the intestine. Mast cells are a type of immune cell. They are involved in allergy reactions, infection fighting and nerve regulation in the body. They have numerous granules that contain a variety of chemicals that mediate body reactions i.e. chemical mediators. Histamine is one of the main chemical mediators in mast cells that are released when mast cells are triggered. Mast cells present in the superficial intestinal lining or mucosa in small numbers except when there are parasites, food allergies, increased stress or the presence of other chronic inflammatory bowel diseases such as Crohn's disease or ulcerative colitis. When mast cells release histamine and other chemicals, this irritates or inflames the bowel making it more permeable or leaky. This can set up a vicious cycle of pain and further gut injury.

MAT deficiency

MAT deficiency (medical condition): A rare inherited disease characterized by the bodies inability to metabolise certain amino acids and products of the breakdown of fat. Harmful levels of organic acids build up in the body and cause ketoacidic attacks.

Maternal hyperphenylalaninemia

Maternal hyperphenylalaninemia: A rare disorder where a mother suffering from phenylketonuria during pregnancy can result in various birth abnormalities.

Maternally Inherited Leigh Syndrome

Maternally Inherited Leigh Syndrome: A rare condition where Leigh syndrome is inherited from the mother. Leigh syndrome is characterized by degeneration of the brain and impaired function of various organs.

Mathieu De Broca Bony syndrome

Mathieu de broca bony syndrome (medical condition): A very rare syndrome characterized by a cleft palate, short stature and abnormalities of the vertebrae in the spine.

Matsoukas Liarikos Giannika syndrome

Matsoukas-Liarikos-Giannika syndrome: A very rare syndrome characterized mainly by mental retardation, short stature and eye and joint abnormalities.

Maturity onset diabetes of the young

Maturity-onset diabetes of the young (MODY) is an uncommon form of diabetes that is caused by a genetic defect inherited from either parent. It is sometimes considered a subgroup of type 2 diabetes but differs in several ways from the standard form of that disease. It can also be misdiagnosed as type 1 diabetes or other forms of diabetes. MODY is most often diagnosed in teens or young adults of normal weight and build. It is sometimes seen in children as young as 6 years old. Several genetic defects have been identified in MODY patients. Of the eight known types of MODY, most can be controlled by diet alone or through antidiabetic agents. However, certain types of MODY require insulin therapy. The offspring of a person with MODY have a 50 percent risk of developing the condition. Because of this, MODY is often present in at least two generations of a patient’s family.

Maumenee syndrome

Maumenee syndrome: A rare inherited disorder characterized by deafness at birth and corneal dystrophy which impairs vision.

Maxillary double lip

Maxillary double lip: A rare defect where the upper lip is duplicated and is noticeable when smiling.

Maxillofacial dysostosis

Maxillofacial dysostosis: A rare inherited disorder characterized by jaw, ear and eye abnormalities as well as speech problems.

May-Hegglin anomaly

May-Hegglin Anomaly: An inherited blood disorder involving abnormalities in some of the blood components (platelets and certain leukocytes).