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Diastrophic dysplasia MeSH Supplementary Concept Data 2023


MeSH Supplementary
Diastrophic dysplasia
Unique ID
C536170
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536170
Entry Term(s)
Diastrophic dwarfism
Registry Number
0
Heading Mapped to
*Dwarfism
Frequency
33
Note
An autosomal recessive type of dwarfism characterized by SCOLIOSIS, a form of clubbed foot bilaterally, malformed pinnae with calcification of the cartilage, premature calcification of the costal cartilages, and CLEFT PALATE in some cases. Mutations in the SLC26A2 gene have been identified. OMIM: 222600
Date of Entry
2010/08/25
Revision Date
2015/09/26
Diastrophic dysplasia Preferred
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