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RAPADILINO syndrome
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Rapadilino syndrome | |
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Other names | Radial and patellar aplasia, Radial and patellar hypoplasia |
Rapadilino syndrome has an autosomal recessive pattern of inheritance. | |
Specialty | Medical genetics |
RAPADILINO syndrome is an autosomal recessive disorder characterized by:
- 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. It has been associated with the gene RECQL4. This is also associated with Rothmund–Thomson syndrome and Baller–Gerold syndrome.
External links
Classification | |
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External resources |
Appendicular limb / dysmelia |
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Axial |
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DNA replication |
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DNA repair |
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