RAPADILINO syndrome is an

autosomal recessive disorder An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes ...

characterized by: * RA: radial ray defect * PA: patellar

aplasia Aplasia (; from Greek ''a'', "not", "no" + ''plasis'', "formation") is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process. Aplastic anemia is the failure of the body to produ ...

, 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 Finland ( fi, Suomi ; sv, Finland ), officially the Republic of Finland (; ), is a Nordic country in Northern Europe. It shares land borders with Sweden to the northwest, Norway to the north, and Russia to the east, with the Gulf of Bo ...

than elsewhere in the world. It has been associated with the gene

RECQL4 ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the ''RECQL4'' gene. Mutations in ''RECQL4'' are associated with the autosomal recessive disease Rothmund–Thomson syndrome, a disorder that has features of premature aging. ...

. This is also associated with

Rothmund–Thomson syndrome Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase '' RECQL4'' gene, causing problems during init ...

and Baller–Gerold syndrome.

References

External links

GeneReviews/NCBI/NIH/UW entry on Baller-Gerold Syndrome
Congenital disorders of musculoskeletal system Autosomal recessive disorders Rare syndromes Syndromes affecting bones DNA replication and repair-deficiency disorders Syndromes affecting stature {{musculoskeletal-stub