RAPADILINO is a rare autosomally recessively inherited malformation syndrome. The acronym introduces the main clinical features: RAdial hypo-/aplasia, PAtellae hypo-/aplasia and cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size and LImb malformation, NOse slender and NOrmal intelligence. The disease is more prevalent in Finland than elsewhere in the world; 14 patients have been reported in Finland and only 2 in other countries.
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Paper published in Human Molecular Genetics in 2003.
Abstract of an article by Siitonen et al describing the genetics of RAPADILINO.
Lists references, clinical symptoms, and genetics.
Portal for information on this rare disorder.
Paper published in Human Molecular Genetics in 2003.
Lists references, clinical symptoms, and genetics.
Portal for information on this rare disorder.
Abstract of an article by Siitonen et al describing the genetics of RAPADILINO.
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June 9, 2019 at 13:27:10 UTC
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Regional: Europe: United Kingdom: England: Devon: Newton Poppleford
- Recently edited by merlin1
- Recently edited by merlin1