Renal dysplasia-limb defects syndrome (RL syndrome), also known as Ulbright–Hodes syndrome, is a very rare autosomal recessive congenital disorder. It...
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arthritis Renal dysplasia-limb defects syndrome Renfield syndrome Renpenning's syndrome Restless legs syndrome Restrictive dermopathy Retinoic acid syndrome Retirement...
41 KB (4,052 words) - 14:58, 17 June 2024
organ abnormalities: cardiac defects (most frequently atrial septal defect and ventricular septal defects), and renal defects such as agenesis or multicystic...
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VACTERL association (redirect from VACTER syndrome)
Tracheoesophageal fistula E - Esophageal atresia R - Renal (Kidney) and/or radial anomalies L - Limb defects Although it was not conclusive whether VACTERL...
13 KB (1,403 words) - 16:46, 22 May 2024
Arthrogryposis (redirect from Arthrogryposis renal dysfunction cholestasis syndrome)
dysplasia other anomalies, also known as Cote Adamopoulos Pantelakis syndrome, Trichooculodermovertebral syndrome, TODV syndrome and Alves syndrome....
35 KB (3,588 words) - 19:20, 22 July 2024
syndrome frequently manifests as pain when the limb is dependent (hanging down the edge of a bed/chair) and/or significant swelling of the whole limb...
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Pentasomy X (redirect from 49 xxxxx syndrome)
issues such as hip dysplasia. The severity of repeated joint dislocations may lead to a differential diagnosis of Larsen syndrome, as suggested in one...
29 KB (3,393 words) - 17:51, 1 August 2024
Esophageal atresia R — Renal (Kidney) and/or radial anomalies L — Limb defects Ventricular septal defect (VSD), atrial septal defects (ASD), and tetralogy...
47 KB (4,833 words) - 03:33, 12 August 2024
tract include renal parenchyma, kidneys, and urinary collecting system. Defects can be bilateral or unilateral, and different defects often coexist in...
95 KB (10,075 words) - 04:37, 10 August 2024
Potter sequence (redirect from Bilateral renal agenesis dominant type)
bilateral renal agenesis in 21.25% of cases; cystic dysplasia in 47.5%; obstructive uropathy in 25%; and others in 5.25%. Bilateral renal agenesis has...
23 KB (2,367 words) - 15:08, 10 August 2024
Deep vein thrombosis (redirect from Deep vein thrombosis in lower limb (NOS))
setting of acute compartment syndrome, an urgent fasciotomy is warranted to protect the limb. Superior vena cava syndrome is a rare complication of arm...
144 KB (14,636 words) - 10:57, 13 August 2024
Capillary leak syndrome, or vascular leak syndrome, is characterized by the escape of blood plasma through capillary walls, from the blood circulatory...
22 KB (2,379 words) - 14:33, 4 January 2024
Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome and split hand–split foot–ectodermal dysplasia–cleft syndrome: 520 is...
21 KB (2,617 words) - 01:17, 6 July 2024
Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital...
10 KB (938 words) - 21:23, 2 December 2023
preferred agent, as warfarin is teratogenic (associated with birth defects). Budd Chiari syndrome in pregnancy is associated with an increased risk of miscarriage...
21 KB (2,253 words) - 14:22, 28 July 2024
non-heritable birth defects via a toxic effect on an embryo or fetus. Defects include malformations, disruptions, deformations, and dysplasia that may cause...
43 KB (4,756 words) - 17:35, 15 July 2024
Aneurysm (section Renal (kidney) aneurysm)
Life-Threatening Rupture of an Intraparenchymal Aneurysm of Renal Artery (Wunderlich's Syndrome)". Case Reports in Vascular Medicine. 2013: 452317. doi:10...
48 KB (5,367 words) - 16:35, 3 August 2024
investigation is done Abdominal wall defects are common in newborns with BWS and may require surgical treatment. These defects can range in severity from omphalocele...
31 KB (3,949 words) - 17:49, 23 January 2024
Sirenomelia (redirect from Mermaid Syndrome)
cases of limb fusion correlate with more severe dysplasia in the pelvis. Rather than the two iliac arteries present in fetuses with complete renal agenesis...
16 KB (1,807 words) - 15:17, 16 November 2023
(1991). "Retinal dysplasia in the Samoyed dog is the heterozygous phenotype of the gene (drds) for short limbed dwarfism and ocular defects". Transactions...
24 KB (2,711 words) - 22:48, 12 August 2024
List of genetic disorders (redirect from List of genetic syndromes)
diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities". Molecular Cytogenetics. 12 (1): 19. doi:10...
43 KB (983 words) - 04:37, 11 August 2024
Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia...
15 KB (1,486 words) - 03:08, 11 July 2024
Neurofibromatosis type I (redirect from Von Recklinghausen syndrome)
bones or of the eye sockets (lambdoid suture defects, sphenoid dysplasia) Unilateral overgrowth of a limb. When a plexiform neurofibroma manifests on a...
49 KB (5,635 words) - 21:28, 7 August 2024
Thrombosis (section Renal vein thrombosis)
cirrhosis, diverticulitis or cholangiocarcinoma. Renal vein thrombosis is the obstruction of the renal vein by a thrombus. This tends to lead to reduced...
47 KB (4,705 words) - 16:53, 22 July 2024
females. Campomelic dysplasia – a condition caused by de novo autosomal dominant mutations in the SOX9 gene, causing bowing of the limbs, sex reversal in...
72 KB (7,798 words) - 08:45, 14 August 2024
Hay–Wells syndrome (AEC syndrome, ankyloblepharon filiforme adnatum–ectodermal dysplasia–cleft palate syndrome, ankyloblepharon–ectodermal defects–cleft lip...
198 KB (17,958 words) - 01:24, 6 July 2024
Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities...
14 KB (1,690 words) - 22:00, 15 March 2024
brachydactyly, peculiar faces, hypoplastic epiglottis, cardiovascular defects, renal cysts, and also genital anomalies. Death occurs before or at birth.[citation...
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Bilateral multicystic dysplastic kidneys Camptomelic dysplasia Cardiac rhabdomyoma Caudal regression syndrome Chorioangioma Cleft palate Club foot Coarctation...
3 KB (223 words) - 18:41, 19 March 2024
examination showed Dandy–Walker malformation, ventricular septal defect, and renal cystic dysplasia. Cunniff et al. (1990) described affected brothers and 3 other...
25 KB (3,080 words) - 06:59, 15 April 2024