An inherited connective tissue disorder with certain characteristics of Marfan and Ehlers-Danlos syndromes. Ehlers-Danlos syndrome is characterized by hyperextensible skin and loose joints and Marfan syndrome is characterized by symptoms such as tall, slender build, ear anomalies and hand contractures.
A very rare syndrome characterized mainly by psychomotor retardation, a flat face and some symptoms of Marfan syndrome (long arms and legs, tall stature, reduced skin fat and poor muscle tone).
A rare inherited disorder where a part of the brain tissue is misplaced during development. The disorder is usually asymptomatic on its own and is only discovered accidentally.
Marginal zone lymphoma (MZL) refers to a group of rare, slow-growing non-Hodgkin lymphomas. They typically develop in lymphoid tissue. This tissue contains B cells, a type of white blood cell that’s in parts of your immune system like your lymph nodes and spleen.
Your lymph nodes contain lymphoid follicles. Lymphoid follicles have two zones, or sections — mantle zones and marginal zones. Marginal zones wrap around mantle zones. Marginal zone lymphoma happens when B cells in the marginal zone mutate (change), becoming abnormal cells that multiply excessively.
Marginal zone lymphomas usually affect people aged 60 and older. They tend to be more common in men than in women.
An inherited brain disorder that affects muscle coordination
A rare inherited condition characterized by hair loss that starts during childhood. Women tend to have normal thickness hair that doesn't grow very long and loss of hair on other parts of the body such as eyelashes. Nail and teeth growth is also usually limited.
Marinesco-Sjögren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjögren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and difficulty coordinating movements (ataxia), which may impair their ability to walk. People with Marinesco-Sjögren syndrome may experience further decline in muscle function later in life. Most people with Marinesco-Sjögren syndrome have mild to moderate intellectual disability. They also have skeletal abnormalities including short stature and a spine that curves to the side (scoliosis). Other features of Marinesco-Sjögren syndrome include eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and impaired speech (dysarthria).
A very rare disorder characterized by cataracts (during childhood), mental retardation, muscle weakness and brain degeneration. The disorder is very similar to another syndrome called Marinesco-Sjogren syndrome.
A rare condition where localized areas of blood vessels undergo changes and may result in bleeding. Severity of the condition depends on the location of these lesions. Lesions can occur in internal organs where bleeding can result in death. Lesions can also occur on the skin, inside the mouth and even on the genitals.
A very rare syndrome
A rare congenital disorder characterized by extra little fingers and extra big toes as well as the normal features associated with Apert syndrome.
A very rare lethal syndrome characterized mainly by abnormal bone development.
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
A rare disorder characterized by visceral diverticula and a Marfanoid build (tall, slight build)
A very rare syndrome characterized mainly by reduced parathyroid hormone level, low growth hormone level and other minor abnormalities.
A rare disorder characterized by loss of vision and dystonia. It is believed to be a variant of Leber's atrophy associated with dystonia.
A rare genetic disorder characterized by a distinctive face and vision and hearing impairment.
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
A very rare syndrome characterized by a cleft lip and palate, webbed fingers, missing teeth and hair abnormality (pili torti).
A rare inherited condition characterized by mental retardation, cataracts, small head and hypogonadism (reduced production of hormones by ovaries or testes)
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
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.
A very rare syndrome characterized mainly by abnormal brain development (lissencephaly - smooth brain) and multiple joint contractures at birth.
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 (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.
A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
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: A rare disorder where a mother suffering from phenylketonuria during pregnancy can result in various birth abnormalities.