Upington disease

Other names| Perthes-like hip disease, Enchondromata, Ecchondromata, and Familial dyschondroplasia,[1][2]
Upington disease has an autosomal dominant pattern of inheritance.

Upington disease is an extremely rare[3] autosomal dominant malformation disorder. It has only one published source claiming its existence in three generations of one family from South Africa .[4]

## Contents

* 1 Presentation
* 2 Genetics
* 3 Management
* 4 Eponym
* 5 References
* 6 External links

## Presentation

The disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata.[citation needed]

## Genetics

Upington disease is inherited in an autosomal dominant manner.[4][5] 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.[citation needed]

## Management

## Eponym

The name Upington refers to the city in the Northern Cape Province, South Africa , from where the family originates.[1]

## References

1. ↑ 1.0 1.1 Online Mendelian Inheritance in Man (OMIM) 191520
2. ↑ "Upington disease | Disease | Living With | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/gard/5421/upington-disease/resources/3#Medical%20Resources.
3. ↑ Disease ID 5421 at NIH's Office of Rare Diseases
4. ↑ 4.0 4.1 "Upington disease: a familial dyschondroplasia". S. Afr. Med. J. 45 (36): 994–1000. 1971. PMID 5316541.
5. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Upington disease". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3408.

## External links

Classification|

* ICD-10: M91.8
* ICD-9-CM: xxx
* OMIM: 191520

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External resources|

* Orphanet: 3408

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