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  5. RAPADILINO Syndrome  4 Sites
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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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. Orphanet: RAPADILINO Syndrome - Portal for information on this rare disorder. Online Mendelian Inheritance in Man - Lists references, clinical symptoms, and genetics. Molecular Defect of RAPADILINO Syndrome Expands the Phenotype Spectrum of RECQL Diseases - Paper published in Human Molecular Genetics in 2003.
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See Also
Musculoskeletal Disorders
Health : Child Health : Conditions and Diseases 3 Sites
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