Dyssynergia Cerebellaris Myoclonica
Dyssynergia Cerebellaris Myoclonica is a rare neurological condition characterized by involuntary, shock-like muscle jerks (myoclonus) superimposed on poor coordination (dyssynergia) due to ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Ramsay Hunt Cerebellar Syndrome
Ramsay Hunt Cerebellar Syndrome is a rare degenerative disorder of the cerebellum first described by James Ramsay Hunt. It is characterized by a combination of involuntary muscle jerks, tremor, and ...
Ramsay Hunt Syndrome
Ramsay Hunt syndrome is an acute neurological condition caused by reactivation of the varicella-zoster virus (the same virus behind chickenpox) within the geniculate ganglion of the facial nerve. ...
Radiologically Isolated Syndrome (RIS)
Radiologically Isolated Syndrome (RIS) refers to the incidental finding of magnetic resonance imaging (MRI) abnormalities suggestive of multiple sclerosis (MS) in individuals who have never ...
PrP Systemic Amyloidosis
PrP systemic amyloidosis is an exceptionally rare inherited disorder characterized by the extracellular deposition of misfolded prion protein (PrP) fibrils in multiple organs and peripheral nerves. ...
Proud Syndrome
Proud syndrome is an exceptionally rare genetic disorder that falls under the category of syndromic X-linked intellectual disabilities. It is caused by mutations in the ARX (aristaless-related ...
Pourfour du Petit syndrome (PdPS)
Pourfour du Petit syndrome (PdPS), also called “reverse Horner syndrome,” is a rare neurological disorder characterized by overstimulation of the oculosympathetic pathway on one side of the head. ...
Posterior Reversible Encephalopathy Syndrome (PRES)
Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic condition in which sudden changes—often in blood pressure or from toxins—overwhelm the brain’s ability to regulate blood flow, ...
Shprintzen–Goldberg Syndrome
Shprintzen–Goldberg Syndrome (SGS) is a rare, inherited connective-tissue disorder caused by mutations in the SKI gene. It disrupts the normal regulation of transforming growth factor–beta (TGF-β) ...
Craniofrontonasal Dysplasia
Craniofrontonasal dysplasia (CFND), also known as craniofrontonasal syndrome or craniofrontonasal dysostosis, is a very rare genetic disorder characterized by premature fusion of the coronal cranial ...
Beare–Stevenson Cutis Gyrata Syndrome
Beare–Stevenson Cutis Gyrata Syndrome is an extremely rare genetic disorder marked by distinct craniofacial and skin abnormalities. Because fewer than 25 cases have been reported worldwide, ...
Jackson-Weiss syndrome (JWS)
Jackson-Weiss syndrome (JWS) is a rare, autosomal dominant genetic disorder marked by premature fusion of certain skull bones (craniosynostosis) and characteristic foot abnormalities. ...
Saethre–Chotzen Syndrome
Saethre–Chotzen syndrome is a rare genetic condition characterized primarily by the early fusion of certain skull bones (craniosynostosis), leading to distinct facial features and limb differences. ...
Muenke Syndrome
Muenke syndrome is a genetic condition characterized primarily by the premature fusion of certain skull bones (craniosynostosis), leading to an abnormally shaped head and face. First described in ...
Crouzon Syndrome
Crouzon syndrome, also known as craniofacial dysostosis type I, is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the ...
Acrocephalosyndactyly
Acrocephalosyndactyly (ACS) refers to a group of rare congenital disorders characterized by the early fusion of skull bones (craniosynostosis) and webbing or fusion of the fingers and toes ...
Syndromic Craniosynostosis
Syndromic craniosynostosis refers to premature fusion of one or more cranial sutures occurring as part of a broader genetic syndrome. Unlike isolated craniosynostosis, which affects only skull shape, ...
Multiple-Suture Synostosis
Multiple-suture synostosis is a congenital condition in which two or more of the fibrous joints (sutures) between an infant’s skull bones fuse prematurely. Normally, these sutures remain open during ...
Trigonocephaly
Trigonocephaly, also known as metopic synostosis or metopic craniosynostosis, is a congenital skull malformation in which the metopic suture—the fibrous joint running from the top of the head down ...
Metopic Synostosis
Metopic synostosis, also known as trigonocephaly, is a form of craniosynostosis in which the metopic suture—the fibrous seam running from the top of the head down the middle of the forehead—fuses too ...
