Metaphyseal Chondrodysplasia, Schmid Type (SMCD)

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Disease Ontology 12 DOID:0080021 OMIM 58 156500 MESH via Orphanet 46 C537352 ICD10 via Orphanet 35 Q78.5 UMLS via Orphanet 75 C0265289

Orphanet 60 ORPHA174 MedGen 43 C0265289 SNOMED-CT via HPO 70 103276001 15188001 166702002 263681008 271706000 28681006 299331007 32958008 343087000 43476002 57219006 66931009 74820003 90145001 95828007 more UMLS 74 C0265289 C2748503

NIH Rare Diseases : ⁵⁴ Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis, leg pain, joint pain, hip deformities, and an outward flaring of the bones of the lower rib cage. As a result of the hip and leg findings, individuals with this condition may have an unusual walk that resembles a waddle. The condition is often mistaken for vitamin D-deficient rickets. MCDS is caused by a mutation in one of the collagen genes known as COL10A1. The mutation may be inherited from a parent or may happen for the first time in an affected individual. The MCDS mutation is passed on in an autosomal dominant manner. Treatment may include physical therapy and/or orthopedic surgery and often requires a team of specialists. Early intervention is important to help children with MCDS reach their potential.

MalaCards based summary : Metaphyseal Chondrodysplasia, Schmid Type, also known as metaphyseal chondrodysplasia schmid type, is related to corneal dystrophy, subepithelial mucinous and cartilage-hair hypoplasia. An important gene associated with Metaphyseal Chondrodysplasia, Schmid Type is COL10A1 (Collagen Type X Alpha 1 Chain), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Degradation of the extracellular matrix. Affiliated tissues include bone, liver and brain, and related phenotypes are abnormality of the metaphysis and genu varum

Disease Ontology : ¹² A metaphyseal dysplasia that results in dwarfism and bowed legs.

OMIM : ⁵⁸ Schmid-type metaphyseal chondrodysplasia is characterized by short stature and bowing of the long bones; radiographic features include widening and irregularity of the growth plates, especially in the distal and proximal femora (summary by Makitie et al., 2005). (156500)

UniProtKB/Swiss-Prot : ⁷⁶ Schmid type metaphyseal chondrodysplasia: Dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end- plate irregularity.

Wikipedia : ⁷⁷ Schmid metaphyseal chondrodysplasia is a type of chondrodysplasia associated with a deficiency of... more...

Clinical features from OMIM:

156500

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