Upington disease

Classification	D ICD-10: M91.8; ICD-9-CM: xxx; OMIM: 191520; MeSH: C536472;
External resources	Orphanet: 3408;

Upington disease
Upington disease
Other names	Perthes-like hip disease, Enchondromata, Ecchondromata, and Familial dyschondroplasia,
	Upington disease has an autosomal dominant pattern of inheritance.
Specialty	Rheumatology

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]

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), and .^{[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[]

^ Jump up to: ^a ^b Online Mendelian Inheritance in Man (OMIM): 191520
^ "Upington disease | Disease | Living With | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2016-03-01.
^ Disease ID 5421 at NIH's Office of Rare Diseases
^ Jump up to: ^a ^b Schweitzer G, Jones B, Timme A (1971). "Upington disease: a familial dyschondroplasia". S. Afr. Med. J. 45 (36): 994–1000. PMID 5316541.
^ ORPHANET - About rare diseases - About orphan drugs

External links[]

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[omim-1] Jump up to: ^a ^b Online Mendelian Inheritance in Man (OMIM): 191520

[2] "Upington disease | Disease | Living With | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2016-03-01.

[3] Disease ID 5421 at NIH's Office of Rare Diseases

[uad-4] Jump up to: ^a ^b Schweitzer G, Jones B, Timme A (1971). "Upington disease: a familial dyschondroplasia". S. Afr. Med. J. 45 (36): 994–1000. PMID 5316541.

[5] ORPHANET - About rare diseases - About orphan drugs

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Upington disease
Other names	Perthes-like hip disease, Enchondromata, Ecchondromata, and Familial dyschondroplasia,^[1]^[2]

Upington disease has an autosomal dominant pattern of inheritance.
Specialty	Rheumatology

Classification	D ICD-10: M91.8 ICD-9-CM: xxx OMIM: 191520 MeSH: C536472
External resources	Orphanet: 3408