Kyphomelic dysplasias

Kyphomelic dysplasias (also known as "pseudocampomelia") is thought to be a heterogeneous class of "bent bone" skeletal dysplasias.  Entities included in a differential for the class are:

Many in the class are thought to be autosomal recessive. May be X-linked.

There are multiple skeletal anomalies associated with this class of dysplasias, and common manifestations are

Other described anomalies include: micrognathia with midface hypoplasia, narrow chest, facial hemangiomas

  • short, bowed femurs
  • short long bones
  • small chest with short ribs
  • short, bowed femurs with metaphyseal flare and irregularity
  • eleven ribs, moderately short

Flared and irregular metaphyses of multiple long bones are also associated with these dysplasias, as well as mild platyspondyly and camptodactyly.

Campomelic dysplasia is the main differential consideration, and cases of both dysplasias have sometimes been misattributed to each other 2.

Stuve-Weidemann dysplasia is currently thought to be separate from both camptomelic dysplasia and the kyphomelic dysplasias.

Osteogenesis imperfecta and congential hypophosphatasia may also be considered on the differential.

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Article information

rID: 33792
Section: Syndromes
Synonyms or Alternate Spellings:
  • Short-limbed campomelic dysplasia, normocephalic type
  • Pseudocampomelia

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