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.

Related categories 3

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.
Online Mendelian Inheritance in Man
Lists references, clinical symptoms, and genetics.
Orphanet: RAPADILINO Syndrome
Portal for information on this rare disorder.
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Last update:
September 26, 2015 at 14:51:45 UTC
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