Items tagged “syndrome”

Achondroplasia is a congenital genetic disorder resulting in rhizomelic dwarfism and is the most common skeletal dysplasia. It has numerous distinctive radiographic features.  Epidemiology It occurs due to sporadic mutations in the majority of cases but can be inherited as an autosomal dominan...

Baastrup disease/syndrome (also referred to as kissing spines) is a cause of low back pain characterized by interspinous bursitis and other degenerative changes of the bones and soft tissues where adjacent spinous processes in the lumbar spine rub against each other. Epidemiology It tends to b...

Budd-Chiari syndrome, also known as hepatic venous outflow obstruction (HVOO), refers to the clinical picture that occurs when there is partial or complete obstruction of the hepatic veins.  There is no clear consensus regarding the number of occluded veins, some authors claim that there should...

CHARGE syndrome is a phenotype associated with CHD7 gene mutation originally defined by a constellation of congenital anomalies: C: coloboma H: heart defects A: atresia choanae R: retarded growth and development G: genital hypoplasia E: ear abnormalities and/or deafness According to updat...

CREST syndrome (also known as limited systemic sclerosis or limited scleroderma) is a variant of progressive systemic sclerosis (PSS) and stands for C - calcinosis R - Raynaud phenomenon E - oesophageal dysmotility S - sclerodactyly T - telangiectasia See also systemic sclerosis

Caplan syndrome, also known as rheumatoid pneumoconiosis, is the combination of seropositive rheumatoid arthritis and a characteristic pattern of fibrosis. Although first described in coal miners (coal workers' pneumoconiosis), it has subsequently been found in patients with a variety of pneumo...

Carney complex (not to be confused with the Carney triad) is a rare multiple endocrine neoplasia syndrome characterized by 1-4: cardiac myxoma often multiple seen in two-thirds of patients with Carney complex skin pigmentation (blue nevi): especially of the face, trunk, lips, and sclera   M...

Cherubism has historically been considered a variant of fibrous dysplasia, but is likely a distinct entity.  Epidemiology Cherubism is a rare disorder and the precise incidence is unknown. It is inherited in an autosomal dominant pattern 2 and has variable penetrance, with onset in early child...

Denervation changes in muscles or denervation myopathy can be observed in a number of settings and results from partial or complete loss of innervation. There is a wide spectrum of clinical manifestations: temporary or permanent symptomatic or asymptomatic. Pathology Causes include 2: neur...

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder resulting from a fragile X “premutation”, defined as 55-200 CGG repeats in the 5’-untranslated region of the FMR1 gene 1. The premutation can expand in subsequent generations (during oogenesis) to...

Pantothenate kinase-associated neurodegeneration (PKAN), historically also known as Hallervorden-Spatz syndrome, is an autosomal recessive disorder causing involuntary spasticity and progressive dementia. It is a subset of neurodegeneration with brain iron accumulation (NBIA). Epidemiology Cla...

Heerfordt syndrome, also known as Heerfordt-Waldenström syndrome or uveoparotid fever, is a variant of sarcoidosis, comprising of: fever parotid enlargement facial palsy ocular involvement (anterior uveitis) Epidemiology The exact prevalence is unknown, as only isolated case reports exist....

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterized by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system. Epidemiology Worldwide prevalen...

Jaffe-Campanacci syndrome is characterized by: multiple non-ossifying fibromas of the long bones and jaw café au lait spots intellectual disability kyphoscoliosis hypogonadism or cryptorchidism ocular malformations cardiovascular malformations giant cell granuloma of the jaw axillary an...

Kasabach-Merritt syndrome, also known as hemangioma thrombocytopenia syndrome, is a rare life-threatening disease found mostly in infants in which a rapidly growing vascular tumor is responsible for thrombocytopenia, microangiopathic hemolytic anemia, and consumptive coagulopathy. Pathology Va...

Leigh syndrome, also known as subacute necrotizing encephalomyelopathy (SNEM), is a mitochondrial disorder with progressive neurodegeneration that invariably leads to death, usually in childhood. Epidemiology Leigh syndrome is encountered in approximately 1 in 40,000 births, although some popu...

Lemierre syndrome (also known as postanginal septicemia) refers to thrombophlebitis of the internal jugular vein(s) with distant metastatic anaerobic septicemia in the setting of initial bacterial oropharyngeal infection such as pharyngitis/tonsillitis into lateral pharyngeal spaces of the neck ...

Aortoiliac occlusive disease, also known as Leriche syndrome, refers to complete occlusion of the aorta distal to the renal arteries. Terminology Originally the triad of erectile dysfunction, pelvis and thigh claudication, with an absence of the femoral pulses was described as Leriche syndrome...

Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an autosomal dominant condition which predisposes to a host of malignancies, including colorectal cancer. It is considered the most frequent form of hereditary colorectal cancer. Diagnosis requires evaluation us...

Möbius syndrome, also known as congenital facial diplegia syndrome, is a rare congenital condition characterized by the absence or underdevelopment of the nuclei of the abducens (CN VI) and facial nerve (CN VII). Epidemiology Möbius syndrome is rare with an estimated incidence of ~1 case per 1...