Dyssynergia Cerebellaris Myoclonica is a rare neurological condition characterized by involuntary, shock-like muscle jerks (myoclonus) superimposed on poor ...
Dr. Emily Black Davis, MD - Clinical, Biochemical Genetics, and Rare Diseases Specialist
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 ...
Ramsay Hunt syndrome is an acute neurological condition caused by reactivation of the varicella-zoster virus (the same virus behind chickenpox) within the ...
Radiologically Isolated Syndrome (RIS) refers to the incidental finding of magnetic resonance imaging (MRI) abnormalities suggestive of multiple sclerosis (MS) ...
PrP systemic amyloidosis is an exceptionally rare inherited disorder characterized by the extracellular deposition of misfolded prion protein (PrP) fibrils in ...
Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Proud syndrome is an exceptionally rare genetic disorder that falls under the category of syndromic X-linked intellectual disabilities. It is caused by ...
Pourfour du Petit syndrome (PdPS), also called “reverse Horner syndrome,” is a rare neurological disorder characterized by overstimulation of the ...
Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic condition in which sudden changes—often in blood pressure or from toxins—overwhelm the ...
Shprintzen–Goldberg Syndrome (SGS) is a rare, inherited connective-tissue disorder caused by mutations in the SKI gene. It disrupts the normal regulation of ...
Craniofrontonasal dysplasia (CFND), also known as craniofrontonasal syndrome or craniofrontonasal dysostosis, is a very rare genetic disorder characterized by ...
Beare–Stevenson Cutis Gyrata Syndrome is an extremely rare genetic disorder marked by distinct craniofacial and skin abnormalities. Because fewer than 25 cases ...
Jackson-Weiss syndrome (JWS) is a rare, autosomal dominant genetic disorder marked by premature fusion of certain skull bones (craniosynostosis) and ...
Saethre–Chotzen syndrome is a rare genetic condition characterized primarily by the early fusion of certain skull bones (craniosynostosis), leading to distinct ...
Muenke syndrome is a genetic condition characterized primarily by the premature fusion of certain skull bones (craniosynostosis), leading to an abnormally ...
Crouzon syndrome, also known as craniofacial dysostosis type I, is a genetic condition characterized by the premature fusion of certain skull bones ...
Acrocephalosyndactyly (ACS) refers to a group of rare congenital disorders characterized by the early fusion of skull bones (craniosynostosis) and webbing or ...
Syndromic craniosynostosis refers to premature fusion of one or more cranial sutures occurring as part of a broader genetic syndrome. Unlike isolated ...
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. ...
Trigonocephaly, also known as metopic synostosis or metopic craniosynostosis, is a congenital skull malformation in which the metopic suture—the fibrous joint ...
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 ...
