Severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome)
A very rare syndrome characterized by the association of severe mental retardation and missing nails on the thumbs and big toes.
A very rare syndrome characterized by the association of severe mental retardation and missing nails on the thumbs and big toes.
A rare type of lymphoma characterized by skin redness, leukemia and enlarged lymph nodes.
A rare disorder characterized by recurring periods of hypothermia that occur for no obvious reason.
A very rare syndrome characterized mainly by thin ribs, narrow-shafted long bones and a large head.
In medicine, mixed connective tissue disease, commonly abbreviated as MCTD, is an autoimmune disease, in which the body's defense system attacks itself. It is also known as Sharp syndrome. Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that causes signs and symptoms of several other connective tissue diseases. People with mixed connective tissue disease experience features of three other diseases — lupus, scleroderma and polymyositis. For this reason, mixed connective tissue disease is sometimes referred to as an overlap disease. Signs and symptoms of these three other diseases usually don't appear all at once. This makes diagnosing mixed connective tissue disease somewhat complicated. Often people with mixed connective tissue disease are first diagnosed with lupus. As the disease progresses and other signs and symptoms become apparent, the diagnosis is corrected. Mixed connective tissue disease occurs most often in women and is usually diagnosed in young adults in their 20s and 30s. However, children have occasionally been diagnosed with mixed connective tissue disease.
Main name of condition: Shaver's disease Other names or spellings for Shaver's disease: bauxite pneumoconiosis, aluminium oxide Shaver-Ridell, non-nodular silicosis Shaver's disease: A progressive lung disorder caused by exposure to aluminium oxide which is present in bauxite fumes. The condition involves inflammation and damage to the air sacs in the lungs.
Alternative Names: Postpartum hypopituitarism; Postpartum pituitary insufficiency; Hypopituitarism Syndrome. Sheehan syndrome is a condition that may occur in a woman who bleeds severely during childbirth.
Shigellosis, also known as bacillary dysentery in its most severe manifestation, is a foodborne illness caused by infection by bacteria of the genus Shigella. It accounts for less than 10% of the reported outbreaks of foodborne illness in the USA. Shigellosis rarely occurs in animals other than humans and other primates like monkeys and chimpanzees. The causative organism is frequently found in water polluted with human feces, and is transmitted via the fecal-oral route. The usual mode of transmission is directly person-to-person hand-to-mouth, in the setting of poor hygiene among children. Ten to fifteen (10-15)% of people affected will die. In the developing world, Shigella causes approximately 165 million cases of severe dysentery and more than 1 million deaths each year, mostly in children in the developing world. Shigella also causes approximately 580,000 cases annually among travelers and military personnel from industrialized countries.
Main name of condition: Spondylocostal dysostosis, Dandy-Walker Other names or spellings for Spondylocostal dysostosis, Dandy-Walker: Shith-Filkins syndrome. Spondylocostal dysostosis, Dandy-Walker: A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).
Short bowel syndrome is a group of problems related to poor absorption of nutrients that typically occurs in people who have had half or more of their small intestine removed. The small intestine and the large intestine, also called the colon, make up the bowel. The small intestine is where most digestion of food and absorption of nutrients occur. People with short bowel syndrome cannot absorb enough water, vitamins, and other nutrients from food to sustain life.
Short broad great toe macrocranium: Another name for Collins-Sakati syndrome (or close medical condition association). Collins-Sakati syndrome: A very rare syndrome characterized mainly by a short, broad toe and a large head.
Short Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) is a condition in which the body cannot oxidize fatty acids because an enzyme is either missing or not functioning correctly.
Main name of condition: Wegmann Jones Smith syndrome Other names or spellings for Wegmann Jones Smith syndrome: Short limb dwarf, oedema, iris coloboma, Short limb dwarf, edema, iris coloboma. Wegmann Jones Smith syndrome: A syndrome which is characterised by the occurrence of short limbs, oedema and iris coloboma.
Main name of condition: Colavita-Kozlowski syndrome Other names or spellings for Colavita-Kozlowski syndrome: Short limb dwarf lethal Colavita Kozlowski type. Colavita-Kozlowski syndrome: A very rare syndrome characterized by dwarfism and resulting in death at birth or in the weeks following birth.
Short limb dwarf lethal, Mcalister Crane type: A very rare syndrome characterized mainly by short arms and legs and resulting in stillbirth or infant death.
Short limb dwarfism, Al Gazali type: A very rare lethal disorder involving severe limb shortening and other skeletal deformities.
Short limbs - abnormal face - congenital heart disease: A very rare syndrome characterized by the association of short arms and legs, an abnormal facial appearance and congenital heart disease. Limb shortening tends to affects the arms more than the legs.
Short limbs subluxed knees cleft palate: A rare syndrome characterized mainly by short limbs, partially dislocated knees and a cleft palate.
Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities.
Short rib syndrome, Beemer type: Another name for Beemer-Langer syndrome (or close medical condition association). Beemer-Langer syndrome: A very rare inherited condition characterized by a number of congenital abnormalities and death generally occurs during early infancy.
Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities.
Short rib-polydactyly syndrome, Saldino-Noonan type: A rare genetic disorder characterized by short stature, bone formation abnormalities, heart defects and other deformities.
Short rib-polydactyly syndrome, Verma-Naumoff type: A rare lethal syndrome characterized by abnormal skeleton formation resulting in extra digits, short ribs, short limbs and genital anomalies.
Short ribs - craniosynostosis - polysyndactyly: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
Short stature - abnormal skin pigmentation - mental retardation: A very rare syndrome characterized mainly by short stature, mental retardation and skin pigmentation abnormalities.
Short stature and locking fingers: Another name for Eng Strom syndrome (or close medical condition association). Eng Strom syndrome: A rare syndrome characterized by short stature and episodes of locked finger joints.
Short stature - contractures - hypotonia: A very rare syndrome characterized mainly by reduced muscle tone, short stature and contractures.
Short stature - cranial hyperostosis - hepatomegaly: A very rare syndrome characterized mainly by a thickened skull, short stature and an enlarged liver.
Short stature - dysmorphic face - pelvic scapula dysplasia: A very rare disorder characterized mainly by unusual facial appearance, short stature and abnormality development of the pelvis and shoulder blade.