Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management

Abstract

The most striking clinical features of Schmid metaphyseal chondrodysplasia which appear within the first 2-3 years of life are: moderate short limbs and short stature, a waddling gait, and increasing shortness of stature with age. The Schmid type of metaphyseal chondrodysplasia is a disorder that arises from defective type X collagen, which is typically found in the hypertrophic zone of the physes. Moderate short stature and a waddling gait associated with pain are the most common clinical presentations. Osteotomies to correct bow legs are sometimes combined with lengthening procedures. Recurrence of the deformities with growth is not uncommon; therefore, hemiepiphysiodesis or stapling might be indicated in some cases.

A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage

“…Schmid metaphyseal chondrodysplasia (SMCD; OMIM #156500) is an autosomal dominant hereditary chondrodysplasia inflicted by the heterozygous mutations in the COL10A1 gene located at the chromosome 6q21-6q22.3 (Bateman et al, 2005; Al Kaissi et al, 2018). The clinical manifestations of SMCD are noticeable only after the second year of disease progression characterized by short-limbed dwarfism, bowed legs, and waddling gait (Al Kaissi et al, 2018). To confirm the incidence of SMCD, the radiography test and genome analysis for the COL10A1 mutation have been performed widely on the patients (Al Kaissi et al, 2018; Park et al, 2015; Hu et al, 2015).…”

A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency

“…The incidence of MDSC is approximately three to six cases per 1,000,000 [2]. The diagnosis is made using radiological imaging, which reveals characteristic findings such as metaphyseal cupping and fraying, most evident in the lower extremities [3]. We present a case of an eight-year-old boy with MDSC and factor VII deficiency.…”

Schmid Metaphyseal Chondrodysplasia

“…Schmid metaphyseal chondrodysplasia (SMCD) is typically diagnosed in early childhood and is the most common and least severe metaphyseal chondrodysplasia [Al Kaissi et al 2018]. It results from disrupted calcification of metaphyseal cartilage and consequent restricted longitudinal growth of bones with preservation of the epiphyses.…”

“…Tibial and femoral bowing is typical. Metaphyseal irregularities of the distal ulnae and radii and enlarged capital femoral epiphyses are less commonly reported [Lachman et al 1988, Al Kaissi et al 2018. The anterior rib ends are often cupped or sclerotic [Bateman et al 2005].…”

“…The exact prevalence of SMCD is unknown. Incidence has historically been estimated at between three and six cases per million [Gokhale & Mehta 2005]; however, these figures may be an underestimate [Al Kaissi et al 2018]. More than 130 unrelated individuals with SMCD and a confirmed pathogenic variant in COL10A1 have been reported.…”