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. …
EEC Syndrome Epidemiology The exact prevalence is not known. More than 300 cases have been described in the literature. Clinical description The three cardinal signs of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate (that can result in speech defects), and abnormalities in several ectodermal …
Crouzon Syndrome Crouzon Syndrome is a rare disease. The clinical features of this Crouzon syndrome characterized by craniosynostosis and facial hypoplasia. Synonyms Crouzon craniofacial dysostosis How common is Crouzon Syndrome? This condition affects approximately 1 to 9 in 1000000 The estimated prevalence in the general population of Europe is 0.9 in 100,000 The incidence of …
Isaac Syndrome Isaac Syndrome is a rare disease. Isaac Syndrome is an immune-mediated peripheral motor neuron disorder The salient features of this condition are as below Stiffness in the muscle due to continuous muscle fiber activity at rest Cramps Myokymia Pseudomyotonia Synonyms Acquired neuromyotonia Continuous muscle fiber activity syndrome Isaac-Mertens syndrome Quantal squander syndrome How …