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acromesomelic chondrodysplasia
Epidemiology: rare
Pathology:
- skeletal disorder
- Maroteaux type: axial skeletal involvement
- wedging of vertebral bodies
Genetics:
- Maroteaux type
a) autosomal recessive
b) 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)
Specific
acromesomelic chondrodysplasia Grebe type
acromesomelic chondrodysplasia Hunter-Thompson type
Du pan syndrome (fibular hypoplasia & complex brachydactyly)
General
osteochondrodysplasia
skeletal dysplasia
Database Correlations
OMIM correlations
References
UniProt :accession P20594