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RAPADILINO Syndrome Websites

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.- Category ID : 76359
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Molecular Defect of RAPADILINO Syndrome Expands the Phenotype Spectrum of RECQL Diseases

Abstract of an article by Siitonen et al describing the genetics of RAPADILINO.
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Orphanet: RAPADILINO Syndrome

Portal for information on this rare disorder.
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Online Mendelian Inheritance in Man

Lists references, clinical symptoms, and genetics.
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