Table 4.

Genes of Interest in the Differential Diagnosis of Spondylometaphyseal Dysplasia, Corner Fracture Type (SMDCF)

GeneDifferential DisorderMOIClinical Features of Differential DisorderRadiographic Features of Differential Disorder
ATP7A Menkes disease (See ATP7A-Related Copper Transport Disorders.)XLShort statureMicrocephaly, kinky sparse hair, skin hypopigmentation, skin/joint laxity, neurologic degeneration, ↓ copper & ceruloplasminCorner fractures, osteoporosisWormian bones
COL10A1 Metaphyseal chondrodysplasia, Schmid type ADShort staturePlatyspondyly, corner fracture-like lesions, metaphyseal abnormalities, coxa vara, genu varumEndplate irregularity, metaphyseal abnormalities of phalanges & metacarpals
PTH1R Metaphyseal chondrodysplasia, Jansen type (OMIM 156400)ADShort stature, facial dysmorphismChoanal stenosis, deafness, nephrocalcinosis, hypercalcemia, hypophosphatemiaCorner fracture-like lesions, osteopenia
TRPV4 Spondylometaphyseal dysplasia, Kozlowski type (OMIM 184252)ADShort trunk, pectus carinatum, scoliosisOdontoid hypoplasia, irregular metaphyses, coxa varaMarked platyspondyly & kyphoscoliosis, severe involvement of short tubular bones, hand/carpal/foot abnormalities; not assoc w/corner fractures
GALNS Mucopolysaccharidosis type IVA ARShort stature, scoliosis, short trunk, pectus carinatum, joint pain, normal intelligenceCoarse facial features, corneal opacities, hearing loss, hepatomegaly, hypermobile joints, abnormal glycosaminoglycan excretion in urineOdontoid hypoplasia, platyspondyly, widened metaphyses, genu valgumCervical subluxation, rib abnormalities, compression of spinal cord, epiphyseal involvement, coxa valga, hip dislocation, ulnar deviation of wrists
PCYT1A Spondylometaphyseal dysplasia w/cone-rod dystrophy (OMIM 608940)ARShort stature, scoliosis, short limbsCone-rod dystrophy, macular involvement, nystagmusOvoid vertebral bodies, platyspondyly, coxa vara, metaphyseal involvement, tibial & femoral bowingRib cupping, flat acetabuli, hypoplastic inferior ilia, narrow sacrosciatic notch, brachydactyly, short metacarpals
CFAP410 Spondylometaphyseal dysplasia, axial (OMIM 602271)ARShort stature, short limbsRetinal abnormalities, progressive retinal degeneration, optic atrophy, cone-rod dystrophy, nystagmus, splenomegalyPlatyspondyly, coxa vara, metaphyseal dysplasia, short metacarpalsSmall thorax & thoracic deformation, lacy iliac wings, narrow sacrosciatic notch, short femoral neck
SBDS 1 Shwachman-Diamond syndrome ARShort statureSmall head circumference, failure to thrive, exocrine pancreatic deficiency, bone marrow failure, DD, IDOvoid vertebral bodies, coxa vara, metaphyseal dysplasia of long bones, osteoporosisNarrow thorax & costal abnormalities, narrow sacroiliac notch, delayed skeletal maturation

AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked


Mutation of EFL1, DNAJC21, or SRP54 may also be associated with Shwachman-Diamond syndrome (SDS) in rare cases. Note: SDS caused by pathogenic variants in SRP54 is inherited in an autosomal dominant manner.

From: Spondylometaphyseal Dysplasia, Corner Fracture Type

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