Diseases

Duane retraction syndrome 2

Limitation of adduction (corresponds to Brown's Type C)which Hubel explains as being caused by co-innervation of both medial and lateral recti on attempted adduction, and

Duane-radial ray syndrome

Duane-radial ray syndrome: A very rare inherited disorder characterized by impaired control of eye movement and bone abnormalities in the hands and feet

Dubin-Johnson syndrome

Dubin-Johnson syndrome is an autosomal recessive disorder which causes an increase of conjugated bilirubin without elevation of liver enzymes (ALT, AST). This condition is associated with a defect in the ability of hepatocytes to secrete conjugated bilirubin into the bile. It is usually asymptomatic but may be diagnosed in early infancy based on laboratory tests.

Dubowitz syndrome

Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance (small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.) Symptoms vary among patients, but other characteristics include a soft, high pitched voice; partial webbing of fingers and toes; palate deformations; genital abnormalities; eczema; hyperactivity; preference for concrete thinking over abstract; language difficulties and aversion to crowds. The pathogenesis of the disease is yet to be identified and no medical tests can definitively diagnose the disease. The main method of diagnosis is through identification of facial phenotype.

Duchenne muscular dystrophy

Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births (about 20,000 new cases each year worldwide). Because the Duchenne gene is found on the X-chromosome, it primarily affects boys; however, it occurs across all races and cultures.

Duchenne can be passed from parent to child, but approximately 35% of cases occur because of a random spontaneous mutation. In other words, it can affect anyone. Although there are medical treatments that may help slow its progression, there is currently no cure for Duchenne.

Duhring Brocq disease

(Duhring Brocq disease is aka "Dermatitis herpetiformis", "Duhring's disease")

Dermatitis herpetiformis (DH) is a chronic disease of the skin marked by groups of watery, itchy blisters that may resemble pimples or blisters. The ingestion of gluten (from wheat, rye, and barley) triggers an immune system response that deposits a substance, lgA (Immunoglobulin A), under the top layer of skin. IgA is present in affected as well as unaffected skin. DH is a hereditary autoimmune gluten intolerance disease linked with celiac disease. If you have DH, you always have gluten intolerance. With DH, the primary lesion is on the skin, whereas with celiac disease the lesions are in the small intestine. The degree of damage to the small intestine is often less severe or more patchy than those with celiac disease. Both diseases are permanent and symptoms/damage will occur after consuming gluten.

 

Source: The Gluten Intolerance Group®

Duhring’s disease

(Duhring's disease is aka "Dermatitis herpetiformis", "Duhring Brocq disease")

Dermatitis herpetiformis (DH) is a chronic disease of the skin marked by groups of watery, itchy blisters that may resemble pimples or blisters. The ingestion of gluten (from wheat, rye, and barley) triggers an immune system response that deposits a substance, lgA (Immunoglobulin A), under the top layer of skin. IgA is present in affected as well as unaffected skin. DH is a hereditary autoimmune gluten intolerance disease linked with celiac disease. If you have DH, you always have gluten intolerance. With DH, the primary lesion is on the skin, whereas with celiac disease the lesions are in the small intestine. The degree of damage to the small intestine is often less severe or more patchy than those with celiac disease. Both diseases are permanent and symptoms/damage will occur after consuming gluten.

 

Source: The Gluten Intolerance Group®

Duker Weiss Siber syndrome

Duker-Weiss-Siber syndrome is characterized by the association of microphthalmos, microencephaly, intellectual deficit, agenesis of the corpus callosum, hypospadius and cryptorchidism. Ophthalmologic findings included, besides microphthalmos, a variable combination of corneal and uveal anomalies, cataract, retinal dysplasia, optic nerve hypoplasia, and congenital blepharoptosis. It has been reported in four related males, one of whom had a female twin who died in utero at 15 weeks' gestation and showed none of the ocular abnormalities. The most likely hypothesis is recessive X-linked transmission. *Author: Orphanet (September 2005)

Duodenal atresia

Duodenal atresia is a condition in which the duodenum (the first part of the small bowel) has not developed properly. It is not open and cannot allow the passage of stomach contents.

Duodenal atresia tetralogy of Fallot

Duodenal atresia tetralogy of Fallot: A rare birth defect characterized by a heart defect and an intestinal malformation where the duodenum is absent or closed off which prevents digested material passing through.

Duodenal ulcer due to antral G-cell hyperfunction

Duodenal ulcer due to antral G-cell hyperfunction: A rare disease where duodenal ulcers form due to the over-functioning antral G-cells. G-cells secrete gastrin which is a hormone that initiates gastric acid production in the stomach. Excessive stomach acid can lead to ulcers.

Duplication of urethra

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.

Dupuytren subungual exostosis

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

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.

Dwarfism bluish sclerae

A form of dwarfism that also involves the presence of bluish sclera (due to abnormally thin sclera).

Dyschromatosis universalis hereditaria

Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by reticulate hyper- and hypo- pigmentated macules in a generalized distribution

Dysequilibrium syndrome

A very rare syndrome characterized mainly by mental retardation and nonprogressive incoordination.

Dyserythropoietic anemia- congenital

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

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.