Acromesomelic dysplasia, Grebe type

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Acromesomelic dysplasia, Grebe type

Synonyms: Chondrodysplasia, Grebe type

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth abnormalities confined to limbs severe shortening and deformity of long bones fusion or absence of carpal and tarsal bones ball shaped fingers and occasionally polydactyly and absent joints. As seen in acromesomelic dysplasia Hunter-Thomson type and acromesomelic dysplasia Maroteaux Type facial features and intelligence are normal.

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: // Data version September 2023.

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Acromesomelic dysplasia, Grebe type?

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