Alport syndrome is an X-linked dominant disease characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions.
sensorineural hearing loss: typically high frequency 2
anterior lenticonus: most common ...
Androgen insensitivity syndrome (AIS), also known as the testicular feminisation syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings.
The incidence may vary depending on whether it i...
Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition.
The clinical spectrum includes:
retinal anomalies: similar to that of retinitis pigmentosa
Bartter syndrome is a rare inherited renal disorder.
Bartter syndrome is characterized by hyperplasia of the juxtaglomerular cells along with:
elevated plasma renin
Birt-Hogg-Dubé (BHD) syndrome or folliculin gene-associated syndrome is a genetic multisystemic disease mainly characterized by:
multiple lung cysts and secondary spontaneous pneumothoraces
multiple bilateral renal tumors (particularly chromophobe renal cell cancer and oncocytoma)
Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant genetic disorder that is characterized clinically by abnormalities affecting the eyes, craniofacial structures, and branchial sinuses.
More than 80 cases have been reported in the global literature since its f...
Conn syndrome, also known as primary hyperaldosteronism, is a condition of excess of aldosterone production and occurs secondary to adrenal cortical adenoma, bilateral adrenal hyperplasia, or rarely, adrenal carcinoma. Differentiation between the causes is required to avoid unnecessary surgery. ...
Cystinosis, also known as Abderhalden Kaufmann Lignac syndrome, is the most common hereditary cause of renal Fanconi syndrome. Cystinosis is one of the lysosomal storage disorders.
It has a reported incidence of 1:192,000 1. Cystinosis is typically diagnosed in infancy.
Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumor gene) and consists of:
Hemolytic uremic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterized by the triad of renal failure, hemolytic anemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.
There are two forms of this syndrom...
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder.
The exact prevalence is unknown.
The cardinal features of HANAC syndrome are helpfully described in the name of...
Hereditary breast and ovarian cancer (HBOC) syndrome is caused by a mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast ca...
Herlyn-Werner-Wunderlich (HWW) syndrome, is a rare anomaly characterized by Müllerian duct anomalies (MDA) associated with mesonephric duct anomalies 3. This entity is also known as obstructed hemivagina and ipsilateral renal anomaly (OHVIRA). It is not to be confused with the Wunderlich syndro...
HIV-associated nephropathy (HIVAN) is commonly seen in patients with HIV/AIDS and leads to end-stage renal disease (ESRD). The diagnosis is not imaging-based and must be confirmed by renal biopsy.
HIVAN is seen in patients at advanced stages of HIV and AIDS, but it can also be see...
Mainzer-Saldino syndrome (also known as conorenal syndrome (CRS)) is a rare condition and is one of the ciliopathies. It is due to mutations in the IFT140 gene, whose protein product is one of the six parts of the intraflagellar transport complex A.
The syndrome's key characteristics are:
McCune-Albright syndrome (MAS) is a genetic disorder characterized by the association of:
endocrinopathy: precocious puberty
polyostotic fibrous dysplasia: more severe than in sporadic cases
cutaneous pigmentation: coast of Maine 'cafe au lait' spots
Presentation is va...
Milk-alkali syndrome is the combination of:
It is due to a large amount of calcium and alkali being ingested (e.g. milk and antacids for peptic ulcer disease treatment or calcium carbonate for osteoporosis). It is a cause of medullary nephrocal...
Multiple endocrine neoplasia (MEN) type IIb, also known as MEN type 3 (MEN3) 3 or mucosal neuroma syndrome 2, accounts for only 5% cases of MEN2 and is characterized by:
pheochromocytoma(s): in 50% of patients, often bilateral, and can be extra-adrenal
medullary thyroid cancer: 100% of patient...
Nephrotic syndrome results from loss of plasma proteins in the urine and characterized by hypoalbuminemia, hyperalbuminuria, hyperlipidemia, and edema. It may be caused by primary (idiopathic) renal disease or by a variety of secondary causes.
Patients present with marked...
Nutcracker syndrome is a vascular compression disorder that refers to the compression of the left renal vein most commonly between the superior mesenteric artery (SMA) and aorta, although other variations can exist 1. This can lead to renal venous hypertension, resulting in rupture of thin-walle...
Ovarian vein syndrome is a relatively rare condition where a dilated ovarian vein causes notching, dilatation, or obstruction of the ureter. This is usually secondary to varicoses of the ovarian vein or ovarian vein thrombosis and occurs at the point where the ovarian vein crosses the ureter.
Pelvic congestion syndrome (some prefer pelvic venous insufficiency 9) is a condition that results from retrograde flow through incompetent valves in ovarian veins. It is a commonly missed and potentially-treatable cause of chronic abdominopelvic pain.
It tends to be more common ...
Renal cysts and diabetes syndrome (RCAD), also known as maturity-onset diabetes of the young, type 5 (MODY5), refers to the combination of renal cortical cysts and diabetes mellitus in patients with mutations in the HNF1B gene. When renal cysts are associated with these mutations without disturb...
Spigelian-cryptorchidism syndrome is the association of Spigelian hernias and cryptorchidism in children.
It is reported that ~50% (range 28-75%) range of pediatric patients with Spigelian hernias will have ipsilateral cryptorchidism 1,2.
Along with Spigelian hernia and cryptorchi...
Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3.
The disease is rare with an estimated prevalence of 1:35,000-50,...
The WAGR syndrome stands for:
Wilms tumors (greatly increased risk)
Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.
Waterhouse-Friderichsen syndrome (also known as purpura fulminans 9 or hemorrhagic adrenalitis 10) is characterized by adrenal insufficiency that results from atraumatic adrenal hemorrhage in consequence of septicemia.
Waterhouse-Friderichsen syndrome is due to septicemia and common...
Wunderlich syndrome is a rare condition, in which spontaneous nontraumatic renal hemorrhage occurs into the subcapsular and perirenal spaces 2.
Wunderlich syndrome is clinically characterized by Lenk's triad:
acute flank pain
Young syndrome shares similar clinical and radiological findings to primary ciliary dyskinesia and cystic fibrosis, however, the underlying pathogenesis is yet to be fully elucidated. Obstructive azoospermia at the level of the epididymis is thought to be the cause of infertility. The commonly r...
Zinner syndrome is a triad of mesonephric (Wolffian) duct anomalies comprising unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction 1.
Patients are typically diagnosed during the 3rd or 4th decade of life and often present with per...