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Winchester syndrome
Winchester syndrome & NAO syndrome are allelic disorders that form a continuous clinical spectrum.
Genetics:
- autosomal recessive
- associated with defects in MMP2
Clinical manifestations:
1) severe with generalized osteolysis & osteopenia
2) subcutaneous nodules are usually absent
3) variable features (not always present)
a) coarse face
b) corneal opacities
c) patches of thickened, hyperpigmented skin
d) hypertrichosis
e) gum hypertrophy
General
inherited disorder of osteolysis; vanishing bone syndrome; osteolysis syndrome
Database Correlations
OMIM 277950
References
- OMIM :accession 277950
- UniProt :accession P08253