Duplication of the thumb unilateral biphalangeal
A rare malformation where the two bones in one thumb are duplicated.
A rare malformation where the two bones in one thumb are duplicated.
Urethral duplication is a rare congenital anomaly with approximately 190 cases described in literature. Most of the reported cases are of incomplete duplications, with complete duplication being rare. This anomaly is most common in males with a few cases having been reported in females.
A rare syndrome characterized mainly by an abnormally narrow duodenum and pancreatic dysfunction.
A benign form of slow-growing tumor that develops on the surface of the bones under the nails. The cause of the condition is unknown and it tends to occur in children and young adults. The big toe is the most common digit affected.
Dwarfism occurs when an individual person or animal is short in stature resulting from a medical condition caused by slow growth. In humans, dwarfism is sometimes defined as an adult height of less than 4 feet 10 inches (58 in; 147 cm).[1] Dwarfism can be caused by more than 300 distinct medical conditions, such that the symptoms and characteristics of individuals with dwarfism vary greatly. Disproportionate dwarfism is characterized by one or more body parts being relatively large or small in comparison to those of an average-sized adult, with growth variations in specific areas being apparent. In cases of proportionate dwarfism, the body appears normally proportioned, but is unusually small.
A form of dwarfism that also involves the presence of bluish sclera (due to abnormally thin sclera).
A very rare form of dwarfism characterized by short stature as well as stiff joints and eye abnormalities.
A rare form of dwarfism characterized by short stature as well as thin bones that are prone to fractures
A rare genetic bone growth disorder characterized by short stature and other skeletal deformities.
A very rare syndrome characterized mainly by abnormal bone development and kidney disease
A very rare syndrome characterized mainly by patches of abnormal skin pigmentation affecting the face and back of hands and top of feet
Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by reticulate hyper- and hypo- pigmentated macules in a generalized distribution
A very rare syndrome characterized mainly by mental retardation and nonprogressive incoordination.
A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia. Finger and toe abnormalities are also usually present.
Dyserythropoietic anemia, congenital type 1: A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia. Finger and toe abnormalities are also usually present.
Dyserythropoietic anemia, congenital type 2: A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia.
Dyserythropoietic anemia, congenital type 3: An extremely rare blood disorder where abnormal red blood cells are made resulting in anemia.
Dysesthetic Vulvodynia: Generalized pain in the vulvar region which can occur intermittently or constantly and has no obvious cause. The pain may be triggered by activities that put pressure on the area such as bike riding, tight clothes or even intercourse.
Dysferlinopathy (medical condition): An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by deficiency of the dysferlin protein. There is variation in the degree of muscle involvement and the rate of progression.
Dysfibrinogenemia, familial is a type of familial medication condition that is not common. It is associated with an abnormal fibrinogen. Dysfibrinogenemia, familial involves several types and subtypes including Detroit, Wiesbaden, and Amsterdam dysfibrinogenemia.
Dysgerminoma: A rare form of cancer of the germ cells in the ovary. It is generally asymptomatic in the early stages. Prognosis with treatment is generally quite good.
Dysgnathia complex: A very rare disorder characterized by a small or absent jaw, ear abnormalities and a small mouth and tongue. The severity and range of symptoms is variable.
Dysharmonic skeletal maturation - muscular fiber disproportion: A very rare syndrome characterized mainly by abnormal bone development and muscle problems
Dyskeratosis congenita (DKC, Zinsser-Cole-Engman syndrome), is a rare progressive congenital disorder with a highly variable phenotype. The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, but these components do not always occur. DKC is characterized by short telomeres. Some of the manifestations resemble premature aging (similar to progeria). The disease initially mainly affects the skin, but a major consequence is progressive bone marrow failure which occurs in over 80%, causing early mortality.
Dyskeratosis congenita of Zinsser-Cole-Engman: An inherited condition characterized by recurring painful mouth ulcers, skin pigmentation and nail abnormalities.
Dyskinesia, drug induced: Dyskenisia (abnormal movements) caused by the use of certain drugs. The movements are involuntary and purposeless and can involve just about any part of the body e.g. lip puckering and rapid eye blinking. It can be caused by drugs such as neuroleptic drugs and other dopamine antagonists.
Dysmorphism - abnormal vocalization - mental retardation: A very rare syndrome characterized mainly by mental retardation, facial abnormalities and an abnormal voice.
Dysmorphism - cleft palate - loose skin: A very rare syndrome characterized mainly by facial abnormalities, an opening in the roof of the mouth and loose skin.
Dysmyelination (medical condition): Defective formation of or destruction of the myelin sheath around nerves