Pseudoachondroplasia

Pseudoachondroplasia

Infobox_Disease
Name = Pseudoachondroplasia


Caption =
DiseasesDB = 32766
ICD10 = Q77.3
ICD9 = ICD9|756.4
ICDO =
OMIM = 177170
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Pseudoachondroplasia is a type of short-limb dwarfism. It is a genetic autosomal dominant disorder. It is generally not discovered until 2-3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a delay in walking or a curious, waddling gait.

Presentation

As the growth rate slows, lumbar lordosis and rhizomelic shortening of the limbs becomes apparent. Most pseudoachondroplasiacs are 80-130 centimeters (31-51 inches) in height. Knee deformities (bow-leggedness, knock-knees) are also common. Joint hypermobility at the wrist and fingers can be seen, although mobility at the elbow is slightly impaired. Osteoarthritis is a common complaint of pseudoachondroplasiacs.

Genetics

The gene for pseudoachondroplasia was located, and is called cartilage oligomeric matrix protein (COMP).

ee also

*Achondroplasia
*Dwarfism

External links

* [http://www.hopkinsmedicine.org/greenbergcenter/pseudoac.htm Clinical summary at hopkinsmedicine.org]
* [http://www.nemours.org/internet?url=no/dysplasia/pseudoachondroplasia.html Skeletal Dysplasia at nemours.org]
*


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