RAPADILINO syndrome
| 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 |
| Duration | Lifelong |
| Causes | Mutations in the RECQL4 gene |
| Frequency | Less than 1,000 known cases in the United States |
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.