Upington disease is an extremely rare

autosomal 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 autosom ...

dominant malformation disorder. It has only one published source claiming its existence in three generations of one family from

South Africa South Africa, officially the Republic of South Africa (RSA), is the Southern Africa, southernmost country in Africa. It is bounded to the south by of coastline that stretch along the Atlantic Ocean, South Atlantic and Indian Oceans; to the ...

Presentation

The disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened

femoral neck The femoral neck (femur neck or neck of the femur) is a flattened pyramidal process of bone, connecting the femoral head with the femoral shaft, and forming with the latter a wide angle opening medialward. Structure The neck is flattened from ...

s with flattened femoral heads), enchondromata and ecchondromata.

Genetics

Upington disease is inherited in an autosomal dominant manner. This means the defective gene is located on an autosome, and one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

Management

Eponym

The name

Upington Upington ( Nama: //Khara hais) is a town founded in 1873 and located in the Northern Cape province of South Africa, on the banks of the Orange River. The town was originally called Olijvenhoutsdrift ('Olive wood drift'), due to the abundance of ...

refers to the city in the

Northern Cape Province The Northern Cape is the largest and most sparsely populated province of South Africa. It was created in 1994 when the Cape Province was split up. Its capital is Kimberley. It includes the Kalahari Gemsbok National Park, part of the Kgalagadi ...

, from where the family originates.

References

External links

{{Congenital malformations and deformations of musculoskeletal system Rare diseases Congenital disorders of musculoskeletal system Autosomal dominant disorders Genetic disorders with OMIM but no gene Health in South Africa