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GTR Home > Conditions/Phenotypes > Tall stature-scoliosis-macrodactyly of the great toes syndrome

Tall stature-scoliosis-macrodactyly of the great toes syndrome

Synonyms
Epiphyseal chondrodysplasia, miura type
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Miura-type epiphyseal chondrodysplasia (ECDM) is an overgrowth syndrome characterized by tall stature, arachnodactyly of the hands, macrodactyly of the great toes, scoliosis, coxa valga, and slipped capital femoral epiphysis (Miura et al., 2014). Multiple extra epiphyses are present in the hands (Boudin et al., 2018). Mutation in the NPR3 gene (108962) results in Boudin-Mortier syndrome (BOMOS; 619543), a similar phenotype of tall stature, arachnodactyly, elongated great toes, and multiple extra epiphyses. [from OMIM]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMD1, AMDM, ANPRB, ANPb, ECDM, GC-B, GCB, GUC2B, GUCY2B, NPRB, NPRBi, SNSK, NPR2
    Summary: natriuretic peptide receptor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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