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GTR Home > Conditions/Phenotypes > Spondylometaphyseal dysplasia - Sutcliffe type

Spondylometaphyseal dysplasia - Sutcliffe type

Synonyms
Spondylometaphyseal dysplasia corner fracture type; Spondylometaphyseal dysplasia, 'corner fracture' type; Sutcliffe SMD; Sutcliffe type of spondylometaphyseal dysplasia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Spondylometaphyseal Dysplasia, Corner Fracture Type
Spondylometaphyseal dysplasia, corner fracture type (SMDCF) is a skeletal dysplasia characterized by short stature and a waddling gait in early childhood. Short stature may be present at birth or develop in early infancy. Individuals may present with short limbs and/or short trunk. Radiographic features include enlargement and corner fracture-like lesions of the metaphyses, developmental coxa vara, shortened long bones, scoliosis, and vertebral anomalies. Limited joint mobility and chronic pain are common. Vision impairment and glaucoma have been reported.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Jade England
Ashley McFarquhar
Philippe M Campeau
view full author information

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANFH, AOM, COL11A3, SEDC, STL1, COL2A1
    Summary: collagen type II alpha 1 chain

  • Also known as: CIG, ED-B, FINC, FN, FNZ, GFND, GFND2, LETS, MSF, SMDCF, FN1
    Summary: fibronectin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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