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diastrophic dysplasia
Pathology: osteochondrodysplasia
Genetics:
- autosomal recessive
- associated with defects in SLC26A2
Clinical manifestations:
- dwarfism
- spinal deformation
- cervical subluxation
- kyphosis
- scoliosis
- joint abnormalities
- brachydactyly
- hitchhiker thumb
- ossified pinnae
- cleft palate
General
developmental bone disorder
genetic disease of bone/skeletal system
Database Correlations
OMIM 222600
References
OMIM :accession 222600