Syndactyly Type I with Microcephaly and Mental Retardation
Filippi syndrome, also known as Syndactyly Type I with Microcephaly and Mental Retardation, is a very rare autosomal recessive genetic disease.[1] Only a very limited number of cases have been reported to date.[2] Filippi Syndrome is associated with diverse symptoms of varying severity across affected individuals, for example malformation of digits, craniofacial abnormalities, intellectual disability, and growth retardation.[1] The diagnosis of Filippi Syndrome can be done through clinical observation, radiography, and genetic testing.[2][3] Filippi Syndrome cannot be cured directly as of 2022, hence the main focus of treatments is on tackling the symptoms observed on affected individuals.[1][2] It was first reported in 1985.[4]
^ abc"Filippi Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-03-29.
^ abc"Filippi syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2022-03-29.
^Cabala, Magdalena; Stevens, Servi J.C.; Smigiel, Robert (October 2013). "A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature". Clinical Dysmorphology. 22 (4): 146–148. doi:10.1097/MCD.0b013e3283645a30. ISSN 0962-8827. PMID 23863342.
^"Filippi Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-11-05.
Filippisyndrome, also known as Syndactyly Type I with Microcephaly and Mental Retardation, is a very rare autosomal recessive genetic disease. Only a...
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PMC 3412380. PMID 22653753. Ricceri, Laura; De Filippis, Bianca; Laviola, Giovanni (2008). "Mouse models of Rett syndrome: From behavioural phenotyping to preclinical...
NN, Chen LY, Folsom AR, deFilippi C, Heckbert SR, et al. (August 2014). "Incidence of and Risk Factors for Sick Sinus Syndrome in the General Population"...
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There is evidence that mutations in this gene are associated with Filippisyndrome, characterized by growth defects, microcephaly, intellectual disability...
Inglese M, Meani A, Meza C, Motl RW, Salter A, Sandroff BM, Feinstein A, Filippi M (March 2023). "Structural and functional magnetic resonance imaging correlates...
Miller D, Barkhof F, Montalban X, Thompson A, Filippi M (May 2005). "Clinically isolated syndromes suggestive of multiple sclerosis, part I: natural...
issue of MS care. Polman, Chris H; Reingold, Stephen C; Edan, Gilles; Filippi, Massimo; Hartung, Hans-Peter; Kappos, Ludwig; Lublin, Fred D; Metz, Luanne...
doi:10.1093/schbul/sbx151. PMC 5768044. PMID 29136236. Steardo L, de Filippis R, Carbone EA, Segura-Garcia C, Verkhratsky A, De Fazio P (2019-07-18)...
"Clinically Isolated Syndrome (CIS)". National MS Society. Retrieved 4 October 2023. Miller D, Barkhof F, Montalban X, Thompson A, Filippi M (May 2005). "Clinically...
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1002/14651858.CD006565.pub2. PMC 7387115. PMID 19821373. Iuvone T, Esposito G, De Filippis D, et al. (2009). "Cannabidiol: A promising drug for neurodegenerative...
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