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Cardiocranial syndrome, Pfeiffer type is a rare multiple disorder syndrome characterized by congenital heart defects, sagittal craniosynostosis, and severe developmental delay. The condition has been reported in less than 10 patients worldwide. Signs and symptoms. Features of this condition include: Abnormal heart morphology
Korsakoff syndrome (KS) is a disorder of the central nervous system characterized by amnesia, deficits in explicit memory, and confabulation. This neurological disorder is caused by a deficiency of thiamine (vitamin B 1 ) in the brain, and it is typically associated with and exacerbated by the prolonged, excessive ingestion of alcohol . [2]
Snyder–Robinson syndrome (SRS) is an extremely rare inherited genetic disorder characterized by muscular and skeletal abnormalities, varying degrees of intellectual disability, seizures, and slow development. SRS is caused by a mutated SMS gene at chromosome Xp21.3-p22.12, which carries instructions for producing the enzyme spermine synthase.
Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together, giving the appearance of a mermaid's tail, hence the nickname. Classification [ edit ] Classification of sirenomelia by the presence or absence of bones within the lower limb.
Based on symptoms. Frequency. 90 reported cases [1] Named after. Nazneen Rahman. Tatton-Brown–Rahman syndrome (TBRS) is a rare overgrowth and intellectual disability syndrome caused by autosomal dominant mutations in the DNMT3A gene. [1] The syndrome was first recognized in 2014 by Katrina Tatton-Brown, Nazneen Rahman, and collaborators.
Genetics. Proteus syndrome is an overgrowth disorder caused by a rare genetic mosaicism. A genetic mutation during embryonic development gives rise to overgrowth in a subset of the individual's cells. In 2011 researchers determined the cause of Proteus syndrome. In 26 of 29 patients who met strict clinical criteria for the disorder, Lindhurst ...
Choanal atresia. Choanal atresia is a congenital disorder where the back of the nasal passage ( choana) is blocked, usually by abnormal bony or soft tissue (membranous) due to failed hole development of the nasal fossae during prenatal development. It causes persistent rhinorrhea, and with bilateral choanal atresia and obstructed airway that ...
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. [1] The word derives from the Greek σύνδρομον, meaning "concurrence". [2] : 1818 When a syndrome is paired with a definite cause this becomes a disease. [3] In some instances, a syndrome is ...