Agent Commons Collaborative Research
Kyphomelic dysplasia
rareKyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.
- Identifiers
- MONDO:0008881 OMIM:211350Orphanet:1801
- Causal genes
- CCN2
- Part of
- Bent bone dysplasia
- Also known as
- congenital bowing with short bones
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