MCDS
MCID: MTP025
MIFTS: 50
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Metaphyseal Chondrodysplasia, Schmid Type (MCDS)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Metaphyseal Chondrodysplasia, Schmid Type:
Characteristics:Inheritance:OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
waddling gait, often presenting sign in second year leg pain during childhood hand involvement improves with age spinal involvement improves with age GeneReviews:24
Penetrance Penetrance approaches 100%; however, there is wide inter- and intrafamilial phenotypic variation. males and females are equally represented in the case literature. normal stature has been reported, but radiographic features are usually still present. age-dependent phenotypic manifestations are suggested by apparent reduction in hand and spine features with age [savarirayan et al 2000, elliott et al 2005].
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
32
Orphanet: 58
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GARD: 19 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 genetic change in one of the collagen genes known as COL10A1. The genetic change may be inherited from a parent or may happen for the first time in an affected individual. The MCDS genetic change is passed on in an autosomal dominant manner. MalaCards based summary: Metaphyseal Chondrodysplasia, Schmid Type, also known as metaphyseal chondrodysplasia schmid type, is related to corneal dystrophy, subepithelial mucinous and cartilage disease. An important gene associated with Metaphyseal Chondrodysplasia, Schmid Type is COL10A1 (Collagen Type X Alpha 1 Chain), and among its related pathways/superpathways are Peptide chain elongation and Regulation of expression of SLITs and ROBOs. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are waddling gait and coxa vara UniProtKB/Swiss-Prot: 73 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. OMIM®: 57 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) (Updated 08-Dec-2022) Orphanet: 58 Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. Disease Ontology: 11 A metaphyseal dysplasia that results in dwarfism and bowed legs. Wikipedia: 75 Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of... more...
GeneReviews:
NBK547823
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Human phenotypes related to Metaphyseal Chondrodysplasia, Schmid Type:58 30 (show all 48)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:156500 (Updated 08-Dec-2022) |
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Organs/tissues related to Metaphyseal Chondrodysplasia, Schmid Type:
MalaCards :
Bone,
Bone Marrow,
Brain,
Breast,
Lymph Node,
Temporal Lobe,
Cortex
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Articles related to Metaphyseal Chondrodysplasia, Schmid Type:(show top 50) (show all 522)
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ClinVar genetic disease variations for Metaphyseal Chondrodysplasia, Schmid Type:5 (show top 50) (show all 117)
UniProtKB/Swiss-Prot genetic disease variations for Metaphyseal Chondrodysplasia, Schmid Type:73 (show all 18)
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Pathways related to Metaphyseal Chondrodysplasia, Schmid Type according to GeneCards Suite gene sharing:
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