pseudodiastrophic dysplasia https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://rarediseases.info.nih.gov/diseases/9463/pseudodiastrophic-dysplasia https://www.malacards.org/card/pseudodiastrophic_dysplasia SCTID:254058002 pseudodiastrophic dysplasia MEDGEN:140924 Pseudodiastrophic dwarfism Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy. MONDO:0009914 OMIM:264180 MESH:C535826 GARD:0009463 ICD9:756.9 UMLS:C0432206 Orphanet:85174 icd11.foundation:902021042 skeletal dysplasia obsolete primary bone dysplasia with multiple joint dislocations developmental defect during embryogenesis