Thanatophoric dysplasia
Synonyms: TD
A primary bone dysplasia with micromelia characterized by micromelia macrocephaly narrow thorax and distinctive facial features. It includes TD type 1 (TD1) and TD type 2 (TD2) that can be differentiated from each other by femur and skull shape.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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