Leri-Weill syndrome is a mesomelic short stature syndrome with disturbances of bone and cartilage formation and Madelung deformity. Mutations of the SHOX gene cause this disorder. This gene is located on both gonosomes. The pattern of in heritance is depending on the mutation dominant or recessive. Also penetrance seems to be variable.
Growth retardation | |
A disproportional short stature is typical, called mesomelia. |
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Dysmorphism | |
Characteristically, Madlung deformity develops in mid or late childhood. |
Short stature, SHOX-linked | ||||
Langer mesomelic dysplasia | ||||
Leri-Weill dyschondrosteosis | ||||
SHOX | ||||
X-linked familial short stature | ||||
Y-linked familial short stature | ||||
1. |
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6. |
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22. |
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30. |
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31. |
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32. |
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33. |
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38. |
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39. |
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40. |
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Orphanet article Orphanet ID 240 |
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OMIM.ORG article Omim 127300 |
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Wikipedia article Wikipedia EN (Léri–Weill_dyschondrosteosis) |