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:- 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
Check Related conditions for additional relevant tests.
Clinical tests (17 available)
Clinical features
Help- Abnormality of limbs
- Coxa vara
Coxa vara
- MedGen UID: 1790477
- Concept ID: C5551440
- Finding: Anatomical Abnormality
Abnormality of limbs
- Genu varum
Genu varum
- MedGen UID: 154257
- Concept ID: C0544755
- Finding: Finding
Abnormality of limbs
- Coxa vara
- Abnormality of the musculoskeletal system
- Corner fracture of metaphysis
Corner fracture of metaphysis
- MedGen UID: 355781
- Concept ID: C1866687
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Hyperconvex vertebral body endplates
Hyperconvex vertebral body endplates
- MedGen UID: 870847
- Concept ID: C4025307
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Metaphyseal irregularity
Metaphyseal irregularity
- MedGen UID: 325478
- Concept ID: C1838662
- Finding: Finding
Abnormality of the musculoskeletal system
- Odontoid hypoplasia
Odontoid hypoplasia
- MedGen UID: 339524
- Concept ID: C1846439
- Finding: Finding
Abnormality of the musculoskeletal system
- Ovoid vertebral bodies
Ovoid vertebral bodies
- MedGen UID: 344549
- Concept ID: C1855665
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus carinatum
Pectus carinatum
- MedGen UID: 57643
- Concept ID: C0158731
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Short femoral neck
Short femoral neck
- MedGen UID: 373033
- Concept ID: C1836184
- Finding: Finding
Abnormality of the musculoskeletal system
- Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia
- MedGen UID: 1674850
- Concept ID: C4759767
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Corner fracture of metaphysis
- Abnormality of the nervous system
- Waddling gait
Waddling gait
- MedGen UID: 66667
- Concept ID: C0231712
- Finding: Finding
Abnormality of the nervous system
- Waddling gait
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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