acromesomelic chondrodysplasia
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Epidemiology
rare
Pathology
- skeletal disorder
- Maroteaux type: axial skeletal involvement
- wedging of vertebral bodies
Genetics
- Maroteaux type
- autosomal recessive
- associated with defects in NPR2
- with genital anomalies
- associated with defects in BMPR1B
Clinical manifestations
- short stature
- very short limbs
- hand/foot malformations
- severity of limb abnormalities increases from proximal to distal, profoundly affecting hands & feet
- brachydactyly &/or rudimentary fingers (knob-like fingers)
More general terms
More specific terms
- acromesomelic chondrodysplasia Grebe type
- acromesomelic chondrodysplasia Hunter-Thompson type
- Du pan syndrome (fibular hypoplasia & complex brachydactyly)