RAPADILINO syndrome
Medical condition / From Wikipedia, the free encyclopedia
Dear Wikiwand AI, let's keep it short by simply answering these key questions:
Can you list the top facts and stats about RAPADILINO syndrome?
Summarize this article for a 10 year old
SHOW ALL QUESTIONS
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
Quick Facts Other names, Specialty ...
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] |
Close
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]