Rapadilino syndrome
Encyclopedia
Rapadilino syndrome is an autosomal recessive
congenital disorder
characterized by radial
and patellar aplasia
, short stature, arched or cleft palate, limb malformation, and dislocated joints. It is more prevalent in Finland
than elsewhere in the world.
It has been associated with RECQL4
. This is also associated with Rothmund-Thomson syndrome
and Baller-Gerold syndrome.
Recessive
In genetics, the term "recessive gene" refers to an allele that causes a phenotype that is only seen in a homozygous genotype and never in a heterozygous genotype. Every person has two copies of every gene on autosomal chromosomes, one from mother and one from father...
congenital disorder
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
characterized by radial
Radius (bone)
The radius is one of the two large bones of the forearm, the other being the ulna. It extends from the lateral side of the elbow to the thumb side of the wrist and runs parallel to the ulna, which exceeds it in length and size. It is a long bone, prism-shaped and slightly curved longitudinally...
and patellar aplasia
Aplasia
Aplasia is defined in general as "defective development or congenital absence of an organ or tissue." In the field of hematology, the term refers to "incomplete, retarded, or defective development, or cessation of the usual regenerative process."-Examples:*Acquired pure red cell aplasia*Aplasia...
, short stature, arched or cleft palate, limb malformation, and dislocated joints. It is more prevalent in Finland
Finland
Finland , officially the Republic of Finland, is a Nordic country situated in the Fennoscandian region of Northern Europe. It is bordered by Sweden in the west, Norway in the north and Russia in the east, while Estonia lies to its south across the Gulf of Finland.Around 5.4 million people reside...
than elsewhere in the world.
It has been associated with RECQL4
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. There are two types of Rothmund Thomson syndrome and it is Type 2 that is caused by patients carrying...
. This is also associated with Rothmund-Thomson syndrome
Rothmund-Thomson syndrome
Rothmund–Thomson syndrome , also known as poikiloderma atrophicans with cataract or poikiloderma congenitale, is a rare autosomal recessive skin condition originally described by August von Rothmund in 1868. Matthew Sydney Thomson published further descriptions in 1936.There have been several...
and Baller-Gerold syndrome.