Clinical Guidance
Spondylometaphyseal dysplasia, corner fracture type (SMDCF) is 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. Complications include coxa vara, scoliosis, and chronic pain. Some individuals have ocular manifestations. To date, approximately 50 individuals with spondylometaphyseal dysplasia, corner fracture type (SMDCF) have been reported. A heterozygous COL2A1 or FN1 pathogenic variant has been identified in 23 individuals with SMDCF [, , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Two affected individuals had no detailed clinical description . Table 2. Spondylometaphyseal Dysplasia, Corner Fracture Type: Frequency of Select Features
Feature | Proportion of Persons w/Feature | Comment |
|---|
Abnormal metaphyses | 20/20 | — |
Short stature | 19/21 | — |
Short upper extremities | 3/3 | — |
Short lower extremities | 6/7 | — |
Short trunk | 4/6 | — |
Vertebral anomalies | 17/20 | — |
Scoliosis | 16/20 | Mild to severe |
Pectus carinatum | 7/15 | — |
Coxa vara | 10/19 | Typically identified by age 6 yrs |
Abnormal gait | 9/9 | — |
Musculoskeletal pain | 7/7 | Only reported in persons w/FN1-related SMDCF |
Limited mobility | 4/5 | Secondary to pain /or limb deformity |
Genu varum | 10/20 | — |
Genu valgum | 5/20 | — |
Leg length discrepancy | 4/4 | — |
Accentuated lumbar lordosis | 3/4 | — |
Premature birth | 9/15 | — |
Vision impairment | 3/6 | Myopia, borderline intraocular pressure, Brown syndrome |
Dysmorphic features | 5/6 | Only reported in persons w/FN1-related SMDCF Presentation. Individuals with SMDCF present at birth or in early childhood with short stature , scoliosis, variable genu varum or valgum, developmental coxa vara, and pectus carinatum. |
Source: GeneReviews — "Spondylometaphyseal Dysplasia, Corner Fracture Type"
