Clinical Synopsis - #156250 - METACHONDROMATOSIS; METCDS - OMIM
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ICD+

METACHONDROMATOSIS; METCDS


Skel
- Multiple exostoses, esp. digits
- Multiple enchondromatosis

Joints
- No joint deformity, or subluxation

Misc
- Exostoses point toward nearby joint
- Exostoses may resolve spontaneously
- No shortening or bowing of long bones

Radiology
- Striations in metaphyses of long bones and iliac crests

Inheritance
- Autosomal dominant


Creation Date:
Undefined
Edit History:
Undefined

# 156250

METACHONDROMATOSIS; METCDS


SNOMEDCT: 205481009;   ORPHA: 2499;   DO: 0111512;  


Skel
- Multiple exostoses, esp. digits
- Multiple enchondromatosis

Joints
- No joint deformity, or subluxation

Misc
- Exostoses point toward nearby joint
- Exostoses may resolve spontaneously
- No shortening or bowing of long bones

Radiology
- Striations in metaphyses of long bones and iliac crests

Inheritance
- Autosomal dominant


Creation Date:
Undefined

Edit History:
Undefined



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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: July 16, 2024
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