Rapadilino syndrome
| Rapadilino syndrome | |
|---|---|
| Synonyms | Radial and patellar aplasia, Radial and patellar hypoplasia |
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| Rapadilino syndrome has an autosomal recessive pattern of inheritance. | |
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q87.1 |
| OMIM | 266280 |
| DiseasesDB | 34465 |
| MeSH | C535288 |
| Orphanet | 3021 |
RAPADILINO syndrome is an autosomal recessive disorder characterized by:
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.
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