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Upington disease

MedGen UID:: 348145
•Concept ID:: C1860596
•: Disease or Syndrome

Synonyms:	Familial dyschondroplasia; Perthes-like hip disease, enchondromata, and ecchondromata
SNOMED CT:	Upington disease (719041000); Hip dysplasia with enchondromata and ecchondroma syndrome (719041000)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0008624
OMIM®:	191520
Orphanet:	ORPHA3408

Definition

Upington disease has characteristics of Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. [from SNOMEDCT_US]

Clinical features

From HPO

Arthralgia

MedGen UID:: 13917
•Concept ID:: C0003862
•: Sign or Symptom

Joint pain.

See: Feature record | Search on this feature

Broad femoral neck

MedGen UID:: 376496
•Concept ID:: C1849016
•: Finding

An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).

See: Feature record | Search on this feature

Flattened femoral head

MedGen UID:: 348146
•Concept ID:: C1860601
•: Finding

An abnormally flattened femoral head.

See: Feature record | Search on this feature

Enchondromatosis

MedGen UID:: 41775
•Concept ID:: C0014084
•: Finding

Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

See: Feature record | Search on this feature

Arthralgia of the hip

MedGen UID:: 5556
•Concept ID:: C0019559
•: Sign or Symptom

Joint pain affecting the hip.

See: Feature record | Search on this feature

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Abnormality of limbs
- Broad femoral neck
- Flattened femoral head
Abnormality of the musculoskeletal system
- Arthralgia of the hip
- Enchondromatosis
Constitutional symptom
- Arthralgia

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVUpington disease

Primary bone dysplasia with disorganized development of skeletal components
- Upington disease

Follow this link to review classifications for Upington disease in Orphanet.

Professional guidelines

PubMed

Effectiveness and safety of bedaquiline-containing regimens in the treatment of MDR- and XDR-TB: a multicentre study.

Borisov SE, Dheda K, Enwerem M, Romero Leyet R, D'Ambrosio L, Centis R, Sotgiu G, Tiberi S, Alffenaar JW, Maryandyshev A, Belilovski E, Ganatra S, Skrahina A, Akkerman O, Aleksa A, Amale R, Artsukevich J, Bruchfeld J, Caminero JA, Carpena Martinez I, Codecasa L, Dalcolmo M, Denholm J, Douglas P, Duarte R, Esmail A, Fadul M, Filippov A, Davies Forsman L, Gaga M, Garcia-Fuertes JA, García-García JM, Gualano G, Jonsson J, Kunst H, Lau JS, Lazaro Mastrapa B, Teran Troya JL, Manga S, Manika K, González Montaner P, Mullerpattan J, Oelofse S, Ortelli M, Palmero DJ, Palmieri F, Papalia A, Papavasileiou A, Payen MC, Pontali E, Robalo Cordeiro C, Saderi L, Sadutshang TD, Sanukevich T, Solodovnikova V, Spanevello A, Topgyal S, Toscanini F, Tramontana AR, Udwadia ZF, Viggiani P, White V, Zumla A, Migliori GB
Eur Respir J 2017 May;49(5) Epub 2017 May 21 doi: 10.1183/13993003.00387-2017. PMID: 28529205

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Recent clinical studies

Etiology

Congenital Rubella Syndrome Surveillance in South Africa Using a Sentinel Site Approach: A Cross-sectional Study.

Motaze NV, Manamela J, Smit S, Rabie H, Harper K, duPlessis N, Reubenson G, Coetzee M, Ballot D, Moore D, Nuttall J, Linley L, Tooke L, Kriel J, Hallbauer U, Sutton C, Moodley P, Hardie D, Mazanderani AH, Goosen F, Kyaw T, Leroux D, Hussain A, Singh R, Kelly C, Ducasse G, Muller M, Blaauw M, Hamese M, Leeuw T, Mekgoe O, Rakgole P, Dungwa N, Maphosa T, Sanyane K, Preiser W, Cohen C, Suchard M
Clin Infect Dis 2019 May 2;68(10):1658-1664. doi: 10.1093/cid/ciy758. PMID: 30203002 Free PMC Article

Effectiveness and safety of bedaquiline-containing regimens in the treatment of MDR- and XDR-TB: a multicentre study.

Outcomes, infectiousness, and transmission dynamics of patients with extensively drug-resistant tuberculosis and home-discharged patients with programmatically incurable tuberculosis: a prospective cohort study.

Dheda K, Limberis JD, Pietersen E, Phelan J, Esmail A, Lesosky M, Fennelly KP, Te Riele J, Mastrapa B, Streicher EM, Dolby T, Abdallah AM, Ben-Rached F, Simpson J, Smith L, Gumbo T, van Helden P, Sirgel FA, McNerney R, Theron G, Pain A, Clark TG, Warren RM
Lancet Respir Med 2017 Apr;5(4):269-281. Epub 2017 Jan 19 doi: 10.1016/S2213-2600(16)30433-7. PMID: 28109869

Long-term outcomes of patients with extensively drug-resistant tuberculosis in South Africa: a cohort study.

Pietersen E, Ignatius E, Streicher EM, Mastrapa B, Padanilam X, Pooran A, Badri M, Lesosky M, van Helden P, Sirgel FA, Warren R, Dheda K
Lancet 2014 Apr 5;383(9924):1230-9. Epub 2014 Jan 17 doi: 10.1016/S0140-6736(13)62675-6. PMID: 24439237

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Diagnosis

Long-term outcomes of patients with extensively drug-resistant tuberculosis in South Africa: a cohort study.

Upington disease: a familial dyschondroplasia.

Schweitzer G, Jones B, Timme A
S Afr Med J 1971 Sep 18;45(36):994-1000. PMID: 5316541

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Upington disease

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

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