RAPADILINO Syndrome Genetic Disorders Conditions and Diseases
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.
Top: Health: Conditions and Diseases: Genetic Disorders
RAPADILINO Syndrome
See Also:
- Top/Regional/Europe/Finland/Health/Conditions and Diseases
- Top/Health/Child Health/Conditions and Diseases/Musculoskeletal Disorders
- Molecular Defect of RAPADILINO Syndrome Expands the Phenotype Spectrum of RECQL Diseases - Abstract of an article by Siitonen et al describing the genetic disorders genetics of RAPADILINO.
- Online Mendelian Inheritance in Man - Lists references, clinical symptoms, and genetics.
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