| Rapadilino syndrome | |
|---|---|
| Other names | Radial and patellar aplasia, Radial and patellar hypoplasia |
 | |
| Rapadilino syndrome has an autosomal recessive pattern of inheritance. | |
| Specialty | Musculoskeletal |
| Symptoms | Underdevelopment or absences of the bones in the forearms, thumbs, and kneecaps, cleft pallet or high-arched, palate, diarrhea, and short stature. |
| Usual onset | Infancy[1] |
| Duration | Lifelong |
| Causes | Mutations in the RECQL4 gene[2] |
| Frequency | Less than 1,000 known cases in the United States[1] |
RAPADILINO syndrome is an autosomal recessive disorder characterized by:[3]
- RA: radial ray defect
- PA: patellar aplasia, arched or cleft palate
- DI: diarrhea, dislocated joints
- LI: little (short stature), limb malformation
- NO: slender nose, normal intelligence
It is more prevalent in Finland than elsewhere in the world.[4] It has been associated with the gene RECQL4.[4] This is also associated with Rothmund–Thomson syndrome[5] and Baller–Gerold syndrome.[6]
- ^ a b "RAPADILINO syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 18 July 2023.
- ^ "RAPADILINO syndrome". medlineplus.gov. Retrieved 18 July 2023.
This article incorporates text from this source, which is in the public domain.
- ^ Kaariainen H, Ryoppy S, Norio R (1989). "Rapadlino syndrome with radial and patellar aplasia/hypoplasia as main manifestations". Am J Med Genet. 33 (3): 346–351. doi:10.1002/ajmg.1320330312. PMID 2801769.
- ^ a b Siitonen HA, Kopra O, Kääriäinen H, et al. (November 2003). "Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases". Hum. Mol. Genet. 12 (21): 2837–44. doi:10.1093/hmg/ddg306. PMID 12952869.
- ^ Yin J, Kwon YT, Varshavsky A, Wang W (October 2004). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway". Hum. Mol. Genet. 13 (20): 2421–30. doi:10.1093/hmg/ddh269. PMID 15317757.
- ^ Online Mendelian Inheritance in Man (OMIM): 218600
