Familial Adenomatous Polyposis Familial adenomatous polyposis is a genetic disorder that causes cancer of the large intestine (colon) and rectum. People with this condition develop more than 100 non-cancerous growths (polyps) in their colon. Familial adenomatous polyposis (FAP) is a highly penetrant, autosomal-dominant condition characterized by hundreds of colorectal adenomatous polyps that inevitably progress to cancer. …
9 Interesting Facts of Follicular Lymphoma Follicular lymphoma is an indolent (low-grade) form of non-Hodgkin lymphoma arising from germinal center B cells Chronic, essentially incurable, illness characterized by a relapsing and remitting pattern of nodal and bone marrow involvement; in a minority of patients, spontaneous prolonged remission may occur Most patients present with advanced disease; …
Friedreich Ataxia Friedreich Ataxia is a rare condition. This is the most common hereditary neurodegenerative ataxic disorder. Friedreich Ataxia results in degeneration of the dorsal root ganglia, posterior columns, spinocerebellar and corticospinal tracts, and large sensory peripheral neurons. Epidemiology & Demographics Incidence (In U.S.) Estimated incidence of Friedreich Ataxia – at 1 in 30,000 Caucasians …
Felty Syndrome Felty syndrome (FS) is an uncommon extraarticular manifestation of seropositive rheumatoid arthritis (RA), characterized by RA, splenomegaly, and neutropenia. The hallmark feature of FS is a persistent, idiopathic neutropenia and cannot be absent. While Felty syndrome characteristically demonstrates chronic arthritis, splenomegaly, and neutropenia, completion of the triad is not necessary for the diagnosis. …
Barber Say Syndrome Barber Say syndrome (BSS) is a rare disease Its an ectodermal dysplasia characterized by the below features Skin Atrophy Congenital generalized hypertrichosis. Ectropion Microstomia Synonyms Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome How common is Barber Say Syndrome? This condition occurs in <1/1000000 As on date, this rare condition is described in less than twenty patients …
Carnitine Palmitoyl Transferase 2 Deficiency The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency. Synonyms CPT2, adult-onset form CPT2, myopathic form CPTII, adult-onset form CPTII, myopathic form …
Facioscapulohumeral Dystrophy A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles. Synonyms FSH dystrophy FSHD Facioscapulohumeral muscular dystrophy Facioscapulohumeral myopathy Landouzy-Dejerine dystrophy Landouzy-Dejerine myopathy Prevalence of Facioscapulohumeral Dystrophy Facioscapulohumeral muscular dystrophy (FSHD) is a rare familial disease with an estimated prevalence from 1/8,000 to 1/20,000. …