Entry - %191520 - UPINGTON DISEASE - OMIM - (MIRROR)

 
ICD+
% 191520

UPINGTON DISEASE


Alternative titles; symbols

PERTHES-LIKE HIP DISEASE, ENCHONDROMATA, AND ECCHONDROMATA


Clinical Synopsis
 

INHERITANCE
- Autosomal dominant
SKELETAL
- Enchondromata (cartilaginous tumor growing from interior of bone)
- Ecchondromata (cartilaginous tumor projecting under periosteum)
- Arthralgias (hips, knees)
Pelvis
- Premature closure of the capital femoral epiphyses
- Widened femoral necks
- Flattened femoral heads
MISCELLANEOUS
- Onset at age 5 years
- Majority of cases have bilateral involvement
▲ Close

▼ TEXT

In 5 sibships and 3 generations of a family originating from Upington district of the Cape Province, South Africa, Schweitzer et al. (1971) described a new 'dyschondroplasia' in which father-son transmission was noted. The features were Perthes-like hip changes, enchondromata and ecchondromata. Some similarities to Ollier disease and Maffucci disease were noted. The latter two conditions are, however, not mendelian.


▼ REFERENCES

  1. Schweitzer, G., Jones, B., Timme, H. Upington disease: a familial dyschondroplasia. S. Afr. Med. J. 45: 994-1000, 1971. [PubMed: 5316541, related citations]


Creation Date:
Victor A. McKusick : 6/2/1986
Edit History:
alopez : 03/17/2004
mimadm : 6/7/1995
supermim : 3/16/1992
carol : 3/2/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988

% 191520

UPINGTON DISEASE


Alternative titles; symbols

PERTHES-LIKE HIP DISEASE, ENCHONDROMATA, AND ECCHONDROMATA


SNOMEDCT: 719041000;   ORPHA: 3408;  



TEXT

In 5 sibships and 3 generations of a family originating from Upington district of the Cape Province, South Africa, Schweitzer et al. (1971) described a new 'dyschondroplasia' in which father-son transmission was noted. The features were Perthes-like hip changes, enchondromata and ecchondromata. Some similarities to Ollier disease and Maffucci disease were noted. The latter two conditions are, however, not mendelian.


REFERENCES

  1. Schweitzer, G., Jones, B., Timme, H. Upington disease: a familial dyschondroplasia. S. Afr. Med. J. 45: 994-1000, 1971. [PubMed: 5316541]


Creation Date:
Victor A. McKusick : 6/2/1986

Edit History:
alopez : 03/17/2004
mimadm : 6/7/1995
supermim : 3/16/1992
carol : 3/2/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: Nov. 30, 2024