Directory of RAPADILINO Syndrome Resources

Home > Health > Conditions and Diseases > Musculoskeletal Disorders > RAPADILINO Syndrome

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.

Resources in This Category

• Molecular Defect of RAPADILINO Syndrome Expands the Phenotype Spectrum of RECQL Diseases

  http://www.ncbi.nlm.nih.gov/pubmed/12952869
  Abstract of an article by Siitonen et al describing the genetics of RAPADILINO.

• Molecular Defect of RAPADILINO Syndrome Expands the Phenotype Spectrum of RECQL Diseases

  http://hmg.oxfordjournals.org/content/12/21/2837.full
  Paper published in Human Molecular Genetics in 2003.

• Online Mendelian Inheritance in Man

  http://omim.org/entry/266280
  Lists references, clinical symptoms, and genetics.

• Orphanet: RAPADILINO Syndrome

  http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&Lng=EN&Expert=3021&data_id=2716&title=RAPADILINO-syndrome&addSigns=1
  Portal for information on this rare disorder.

Related Categories

• Home > Health > Child Health > Conditions and Diseases > Musculoskeletal Disorders
• Home > Regional > Europe > Finland > Health > Conditions and Diseases
• Home > Health > Conditions and Diseases > Genetic Disorders

 

Home > Health > Conditions and Diseases > Musculoskeletal Disorders > RAPADILINO Syndrome

 

---

 

Thanks to DMOZ, which built a great web directory for nearly two decades and freely shared it with the web. About us