Dk--phocomelia syndrome (medical condition ): An early congenital condition that is characterised by multiple congenital anomalies. Dk--phocomelia syndrome: Another name for Von voss Cherstvoy syndrome (or close medical condition association). Von voss Cherstvoy syndrome: An early congenital condition that is characterised by multiple congenital anomalies.
Dobrow syndrome: A very rare syndrome characterized mainly by abnormal webbing inside the mouth, short stature, eye problems, mental retardation and small head, jaw, eyes and mouth.
Dominant cleft palate: An opening in the roof of the mouth that is inherited as a dominant trait (only one parent has to have the genetic defect for it to be passed on to offspring). The opening may be covered by skin or completely open. The size of the opening can affect the severity of symptoms.
Dominant ichthyosis vulgaris: An inherited disorder characterized by scaling of skin.
Donnai Barrow syndrome (medical condition): A very rare syndrome characterized mainly by a diaphragmatic hernia (defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity), brain development abnormalities and deafness. Diaphragmatic hernia - exomphalos - corpus callosum agenesis: A very rare syndrome characterized mainly by a diaphragmatic hernia (defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity), brain development abnormalities and deafness.
Donovanosis (medical condition): Granulomous disease spread sexually. Donovanosis: Anogenital ulcers caused by Calymmatobacterium granulomatis as distinguished from lymphogranuloma inguinale (see LYMPHOGRANULOMA VENEREUM) caused by CHLAMYDIA TRACHOMATIS. Diagnosis is made by demonstration of typical intracellular Donovan bodies in crushed-tissue smears.
DOOR (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome is a genetic disease which is inherited in an autosomal recessive fashion. DOOR syndrome is characterized by mental retardation, sensorineural deafness, abnormal nails and phalanges of the hands and feet, and variable seizures. A similar deafness-onychodystrophy syndrome is transmitted as an autosomal dominant trait and has no mental retardation. Some authors have proposed that it may be the same as Eronen Syndrome, but since both disorders are extremely rare it is hard to make a determination
Dopamine beta-hydroxylase deficiency: A very rare disorder involving a deficiency of dopamine beta-hydroxylase which affects production of noradrenaline and adrenaline and results in symptoms such as low blood pressure on standing, droopy eyelids and stuffy nose.
Dosage-sensitive sex reversal: A genetic defect resulting in a sex reversal in people with a normal 46,XY karyotype. Thus a genetic male may develop female external genitalia. The severity of the condition is variable with external genitalia ranging from female to ambiguous to male.
Double cortex syndrome: A rare brain development disorder which causes mental retardation and epilepsy. An extra layer of nerves develops under the brain cortex.
Double discordia (medical condition): A rare birth disorder where the right atrium is connected to the left ventricle and vice versa. The position of the heart ventricles is also inverted which allows normal blood oxygenation. Symptoms generally only occur later in life or if other heart defects are present which is usually the case. Double discordia: Another name for Ventriculo-arterial discordance, isolated (or close medical condition association).
Double fingernail of fifth finger: A very rare abnormality where an infant is born with two fingernails on the fifth finger. One fingernail is usually normal with the other one being smaller and located near the first fingernail or even on the palm side of the finger.
Double nails on the fifth toe: A very rare abnormality where an infant is born with two toenails on the fifth toe. One toenail is usually normal with the other one being smaller and located near the first toenail or even underneath the toe.
Double inlet left ventricle (DILV) is a congenital heart defect that affects the valves of the heart. Congenital means it is present from birth. Babies born with this condition have only one working lower chamber (ventricle) in their heart. A case, the sixth, ofdouble outlet left ventricle is reported, the diagnosis being made by cardiac catheterization and angiocardiography. Though the existence of such a malformation has been questioned on embryologicalgrounds, double outlet left ventricle must now be regarded as a recognized cardiac anomaly. The embryological significance of this case is discussed and it is suggested that the malformation is easily explained by the hypothesis of differential conal absorption.
Dracunculiasis, more commonly known as Guinea worm disease (GWD) or Medina Worm, is a parasitic infection caused by the nematode, Dracunculus medinensis. The name, dracunculiasis, is derived from the Latin "affliction with little dragons".The common name "Guinea worm" appeared after Europeans first saw the disease on the Guinea coast of West Africa in the 17th century.The painful, burning sensation experienced by the infected patient has led to the disease being called "the fiery serpent".
Dravet syndrome is a severe form of epilepsy with seizures that are often triggered by hot temperatures or fever. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. In 30 to 80 percent of cases, Dravet syndrome is caused by changes in the SCN1A gene, which is required for the proper function of brain cells.
Duane anomaly - mental retardation: A very rare syndrome characterized mainly by mental retardation and eye movement problems (Duane anomaly).
Duane syndrome (DS) is a rare, congenital eye movement disorder most commonly characterized by the inability of the eye to turn out. The syndrome was first described by Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named for Alexander Duane who discussed the disorder in more detail in 1905 Other names for this condition include: Duane's Retraction Syndrome (or DR syndrome), Eye Retraction Syndrome, Retraction Syndrome, Congenital retraction syndrome and Stilling-Turk-Duane Syndrome.
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: A very rare inherited disorder characterized by impaired control of eye movement and bone abnormalities in the hands and feet
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 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 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 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 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 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 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: 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: 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.