Entry - 127350 - DYSCHONDROSTEOSIS AND NEPHRITIS - OMIM

 
 
127350

DYSCHONDROSTEOSIS AND NEPHRITIS


Clinical Synopsis
 

GU
- Nephritis
Skel
- Osteochondrodysplasia
Growth
- Short stature
- Mesomelic dwarfism
Head
- Normocephaly
Limbs
- Madelung deformity
- Short forearm
- Bowed radius
- Bowed ulna
- Dorsal dislocation of distal ulna
- Short tibia
Joints
- Limited elbow and wrist motion
Neuro
- Normal intelligence
Misc
- Females more severely affected than males
- 4:1 female-to-male ratio
Inheritance
- Autosomal dominant vs. pseudoautosomal
▲ Close

▼ TEXT

Funderburk et al. (1976) described a kindred in which males and females in 4 generations appeared to have this combination. No male-to-male transmission was noted.

▼ REFERENCES

  1. Funderburk, S. J., Smith, L., Falk, R. E., Bergstein, J. M., Winter, H. A family with concurrent mesomelic shortening and hereditary nephritis. Birth Defects Orig. Art. Ser. XII(6): 47-61, 1976.


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
mimadm : 6/25/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/4/1986

127350

DYSCHONDROSTEOSIS AND NEPHRITIS



TEXT

Funderburk et al. (1976) described a kindred in which males and females in 4 generations appeared to have this combination. No male-to-male transmission was noted.

REFERENCES

  1. Funderburk, S. J., Smith, L., Falk, R. E., Bergstein, J. M., Winter, H. A family with concurrent mesomelic shortening and hereditary nephritis. Birth Defects Orig. Art. Ser. XII(6): 47-61, 1976.


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
mimadm : 6/25/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/4/1986



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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: June 9, 2024