• Multicystic dysplastic kidney (MCDK), a variant of renal dysplasia, is one of the most frequently identified congenital anomalies of the urinary tract. (medscape.com)
  • Renal dysplasia, defined as abnormal metanephric differentiation, has variable presentations that cover a spectrum of conditions, including hypoplasia, multicystic dysplasia, and aplasia. (medscape.com)
  • Overall, renal dysplasia is the leading cause of end-stage renal disease in children. (medscape.com)
  • Multicystic dysplastic kidney is a form of renal dysplasia characterized by the presence of multiple, noncommunicating cysts of varying size separated by dysplastic parenchyma and the absence of a normal pelvocaliceal system. (medscape.com)
  • Other terms used to describe this condition include multicystic kidney and multicystic renal dysplasia. (medscape.com)
  • Lim1, an embryonal transcription factor, is absent in multicystic renal dysplasia, but reactivated in nephroblastomas. (medscape.com)
  • In neonates with bilateral renal agenesis, severe neonatal respiratory distress due to associated pulmonary hypoplasia, and spontaneous pneumothorax, further treatment may not be indicated. (medscape.com)
  • Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). (mendelian.co)
  • Facial characteristics of infants with bilateral renal agenesis. (medscape.com)
  • Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. (mendelian.co)
  • Heathcote KSyrris PCarter NDPatton MA A connexin-26 mutation causes a syndrome of sensorineural hearing loss in palmoplantar hyperkeratosis. (jamanetwork.com)
  • Renal aplasia in humans is associated with RET mutations. (medscape.com)
  • Microduplication of 8q12, encompassing the CHD7 gene, which is mutated or deleted in CHARGE syndrome, has recently been identified to result in a novel multiple congenital anomalies syndrome. (biomedcentral.com)
  • Duane retraction syndrome (DRS) is a highly heterogeneous eye-movement disorder that in a quarter to half of cases is associated with additional congenital defects and/or genetic syndromes [ 5 ]. (biomedcentral.com)
  • Noonan syndrome ( NS ) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. (handwiki.org)
  • This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. (rush.edu)
  • Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR). (wikipedia.org)
  • Gene content analysis of the duplicated region and review of the literature suggest that gain-of-dosage of the CHD7 gene may be a good candidate for the main clinical features of the syndrome. (biomedcentral.com)
  • The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)
  • The absence of some genes implies varied phenotypes, which detailed explanation is not fully elucidated yet. (bvsalud.org)
  • Mutation screening of the EYA1, SIX1, and SIX5 genes in an east asian cohort with branchio-oto-renal syndrome. (medscape.com)
  • Introduction: Deletion syndromes are rare events in clinical practice. (bvsalud.org)
  • 22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. (harvard.edu)
  • This graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles. (harvard.edu)
  • Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
  • Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
  • Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)
  • Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome. (harvard.edu)
  • 8 9 Using genome-wide association, we have recently identified susceptibility variants for renal function and CKD at the UMOD , SHROOM3 , and STC1 loci in nearly 20,000 individuals. (bioseek.eu)
  • Although cysts only occur in 5% of the tubules in the kidney, the enormous growth of these cysts ultimately leads to the loss of normal surrounding tissues and loss of renal function. (basicmedicalkey.com)
  • The most common phenotype shared by many ciliopathies is kidney cysts. (basicmedicalkey.com)
  • Renal function: This is assessed with imaging studies and calculation of the glomerular filtration rate (GFR) by using the serum creatinine concentration. (medscape.com)
  • The phenotype is mainly characterized by neurodevelopmental delay, heart defects, facial features and Type 1 Duane anomaly. (biomedcentral.com)
  • The traditional reasons to consider nephrectomy for multicystic dysplastic kidney are to treat or prevent abdominal or flank pain, urinary tract infection, hypertension, or renal malignancy. (medscape.com)
  • Children with Potter syndrome due to conditions such as infantile polycystic kidney disease, multicystic dysplastic kidney, hypoplastic kidney, Prune-Belly syndrome, and rupture of membranes during gestation have a higher survival rate than children with Potter syndrome due to other conditions. (medscape.com)
  • 1 2 This poses a significant global disease burden as the risk for end stage renal disease (ESRD), cardiovascular morbidity, and mortality increases with declining glomerular filtration rate (GFR), 3 the most commonly used measure of kidney function. (bioseek.eu)
  • These genetic entities can exclusively cause deafness or be part of syndromes with other non-auditory alterations. (healthincode.com)
  • A number of genetic mutations can result in Noonan syndrome. (handwiki.org)
  • 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. (harvard.edu)
  • Abnormal features of Noonan syndrome at the age of 3 months: Note the eyebrow slant and left-side eyelid dropping. (handwiki.org)
  • Abnormal features of Noonan syndrome at the age of 3 months: Note the low-set, posteriorly rotated, and abnormally formed ear. (handwiki.org)
  • A 12-year-old girl with Noonan syndrome, displaying typical webbed neck and double structural curve with rib deformity. (handwiki.org)
  • The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. (handwiki.org)
  • The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan syndrome. (handwiki.org)
  • Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease. (handwiki.org)
  • The renal function and respiratory status of neonates born with Potter syndrome must be assessed. (medscape.com)
  • Although more cases are needed to delineate the full-blown phenotype of 8q12 duplication syndrome, published data and present observations suggest that it results in a clinically recognizable phenotype. (biomedcentral.com)
  • The development of the ears and auditory system may be affected in people with Noonan's syndrome. (handwiki.org)
  • In addition, variable developmental problems and schizoid features are also associated with this syndrome. (harvard.edu)
  • Here we report on a further child who carries a de novo 4.2 Mb duplication of the region 8q12.1-q12.3 presenting with developmental delay, dysmorphic features, and type 3 Duane anomaly in order to refine the clinical presentation of the 8q12 microduplication syndrome and to contribute to genotype-phenotype correlation. (biomedcentral.com)
  • [3] [1] Noonan syndrome is a type of RASopathy , the underlying mechanism for which involves attenuation of the RAS/MAPK cell signaling pathway. (handwiki.org)
  • Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck. (handwiki.org)
  • NCPs are of various types and exhibit complex phenotypes, which can affect many parts of the human body, such as the craniofacial structure, heart, intestine, and skin. (chinagene.cn)
  • If a diagnosis is not reached using this panel, it is recommended to extend the study to a whole exome directed by phenotype (based on codes from the HPO database) when the global evaluation of the patient has been completed, thus, after multidisciplinary assessment of the patient. (healthincode.com)
  • The main controversy regarding the indications for nephrectomy is whether this procedure prevents renal malignancy. (medscape.com)
  • In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. (handwiki.org)
  • Renal ultrasonography is the recommended initial diagnostic imaging study. (medscape.com)