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Schmid Metaphyseal Chondrodysplasia

Metaphyseal Chondrodysplasia, Schmid Type


Presentation

  • Presentation may range from mild arthropathy to incompatibility with life. Here we present a case of MCDS, presenting with short stature and initial diagnostic uncertainty.[endocrine-abstracts.org]
  • However, analysis of the expression of the normal and mutant allele transcripts in growth plate cartilage by reverse transcription PCR, restriction enzyme mapping, and a single nucleotide primer extension assay, demonstrated that only normal mRNA was present[ncbi.nlm.nih.gov]
  • In CHH the growth failure is usually already present at birth and always during the first year of life, as was seen also in both patients in this study, whereas in MCDS short stature is seldom the presenting feature and is not present during the first[jmg.bmj.com]
  • Part IV presents congenital and developmental disorders, such as congenital femoral deficiency, hemimelias, tibial pseudoarthrosis and Blount disease, while part V rounds out the book with chapters on sequelae related to different etiologies and their[books.google.com]
Recurrent Respiratory Infections
  • He had a history of recurrent respiratory infections and otitis media, but their frequency was in keeping with the normal rate of infections in the first few years of life.[jmg.bmj.com]
Sparse Hair
  • The diagnosis of MCDS was based clinically on short limbed short stature and absence of evident extra-skeletal manifestations (sparse hair, increased rate of infections, anaemia), and radiographically on compatible metaphyseal changes on skeletal radiographs[jmg.bmj.com]
Normal Hair
  • This latter diagnosis had been clinically excluded on the basis of normal hair, normal ligamental laxity and normal history of infections with normal immunological and haematological findings, even though the family history of consanguinity was suggestive[jmg.bmj.com]
Coxa Vara
  • We studied a family with SMCD: the mother, a 36-year-old woman with a height of 149 cm, had mild bilateral coxa vara. Her two sons presented with short stature, bowed legs, and coxa vara in early childhood.[ncbi.nlm.nih.gov]
  • Other physical characteristics may include outward \"flaring\" of the bones of the lower rib cage, lumbar lordosis, pain in the legs, and/or hip deformities in which the thigh bone is angled toward the center of the body (coxa vara).[checkorphan.org]
  • Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.[monarchinitiative.org]
  • Name Metaphyseal Chondrodysplasia, Schmid Type Synonyms SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE Classification bone, developmental, genetic Phenotypes Autosomal dominant inheritance ; Broad middle phalanx of finger ; Coxa vara ; Distal tibial bowing[mousephenotype.org]
Skeletal Dysplasia
  • We reviewed the radiographs of Schmid MCD patients at the International Skeletal Dysplasia Registry in Los Angeles for evidence of hand involvement. We found hand involvement in 47% (7/15) of cases included in our analysis.[ncbi.nlm.nih.gov]
  • Background: The incidence of skeletal dysplasia is one in 5000, however individually these conditions are rare and prognosis unclear.[endocrine-abstracts.org]
  • Efficacy of growth hormone therapy for patients with skeletal dysplasia. J Bone Miner Metab. 2003;21:307-10. Nishimura G, Manabe N, Kosaki K, et al. Spondylar dysplasia in type X collagenopathy. Pediatr Radiol. 2001;31:76-80.[rarediseases.org]
  • Underlying conditions comprise part III – specific metabolic, neuromuscular and tumor-related conditions, along with arthrogryposis, Osteogenesis Imperfecta and various skeletal dysplasias.[books.google.com]
  • A form of dwarfism (skeletal dysplasia) Prevalence unknown Caused by mutation in the COL10A1 gene Diagnosis of Metaphyseal Chordrodysplasia Schmid Type After birth by: X rays Observation of common physical characteristics What are common characteristics[littlepeopleuk.org]
Flaring of the Lower Rib Cage
  • Flaring of the lower rib cage signals trunk involvement, and the general habitus is stocky or chubby. Adult height is 51 to 63 inches. Radiographic Findings.[musculoskeletalkey.com]
Suggestibility
  • The independent occurrence of de novo mutation of this specific dinucleotide repeat suggests that this region is a possible mutational hot spot on COL10A1.[ncbi.nlm.nih.gov]
Withdrawn
  • Metaphyseal cupping of proximal phalanges ; Mild short stature ; Platyspondyly ; Proximal femoral metaphyseal abnormality ; Short distal phalanx of finger ; Short middle phalanx of finger ; Waddling gait Associated Genes COL10A1 Mouse Orthologs Col10a1 (Withdrawn[mousephenotype.org]
Waddling Gait
  • Abstract Schmid metaphyseal chondrodysplasia (Schmid MCD, MIM 156500) is caused by mutations in the COL10A1 gene and is clinically characterized by short stature, bowed legs, and a waddling gait.[ncbi.nlm.nih.gov]
  • gait Associated Genes COL10A1 Mouse Orthologs Col10a1 (Withdrawn symbols: Col10a-1 ) Source OMIM:156500 (names, synonyms, disease associated genes) , Orphanet (disease classes) , HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse[mousephenotype.org]
  • Short limbed dwarfism Bowed legs (genu varum) Flaring of bones of the lowe rib cage lumbar lordosis hip deformities (coxa vara) Waddling gait Arthritis later in life *Please be aware, not all of the characteristics may be present* Other information about[littlepeopleuk.org]
  • Bowing of the extremities, mild short stature and a waddling gait are evident at a young age.[ctgt.net]

Workup

  • Probably needs a metabolic workup to r/o rickets. Also get x rays of the remaining joints of upper extremity. Regards, Sanjeev Sabharwal Pediatric Orthopedics E-mail: sabharsa@umdnj.edu FROM: K I.[orthopaedicsone.com]

Treatment

  • Decisions about use of a new treatment, or about a change in your current treatment plan, should be in consultation with your doctor or other healthcare professional.[healthetreatment.com]
  • Continued Treatment Your child’s treatment will depend upon what type of chondrodysplasia he has. Most treatments don't increase your child’s height, but they could relieve other problems.[webmd.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Part IV presents congenital and developmental disorders, such as congenital femoral deficiency, hemimelias, tibial pseudoarthrosis and Blount disease, while part V rounds out the book with chapters on sequelae related to different etiologies and their treatment[books.google.com]

Prognosis

  • Prognosis - Metaphyseal chondrodysplasia Schmid type Not supplied. Treatment - Metaphyseal chondrodysplasia Schmid type Not supplied. Resources - Metaphyseal chondrodysplasia Schmid type Not supplied.[checkorphan.org]
  • Background: The incidence of skeletal dysplasia is one in 5000, however individually these conditions are rare and prognosis unclear.[endocrine-abstracts.org]
  • Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children.[lpamrs.memberclicks.net]
  • An adequate genetic evaluation usually facilitates decisions about therapeutic intervention and gives clues about the prognosis. 2. Genetic disorders with primary effect on growth 2.1.[intechopen.com]

Etiology

  • Part I covers general principles and techniques, including etiology, clinical evaluation, imaging as well as different surgical methods.[books.google.com]
  • Pathology by systems Locomotory system Bones Schmid type metaphyseal chondrodysplasia Etiology Schmid-type metaphyseal chondrodysplasia is caused by mutation in the COL10A1 gene (MIM.120110).[humpath.com]
  • Their diagnosis is often difficult, thus, knowledge of the main clinical signs of each syndrome and the algorithm for clinical diagnosis and genetic testing will practically lead to an easier clinical and etiologic diagnosis.[intechopen.com]

Epidemiology

  • Relevant External Links for COL10A1 Genetic Association Database (GAD) COL10A1 Human Genome Epidemiology (HuGE) Navigator COL10A1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: COL10A1 No data available for Genatlas for COL10A1 Gene Cloning[genecards.org]
  • Introduction Heterogeneous group of disorders characterized by metaphyseal changes of the tubular bones with normal epiphyses Epidemiology incidence skeletal dysplasias occur at a rate of 2 to 3 newborns per 10,000 births Pathophysiology metaphyseal dysplasia[orthobullets.com]
Sex distribution
Age distribution

Pathophysiology

  • Mechanisms of Clinical Signs is the first consolidated text of its kind; designed to help medical students and junior doctors understand the pathophysiological mechanisms behind clinical signs.[books.google.com]
  • Introduction Heterogeneous group of disorders characterized by metaphyseal changes of the tubular bones with normal epiphyses Epidemiology incidence skeletal dysplasias occur at a rate of 2 to 3 newborns per 10,000 births Pathophysiology metaphyseal dysplasia[orthobullets.com]

Prevention

  • Most internal SMCD mutations probably prevent protein folding, whereas mutations of surface residues may affect the collagen X suprastructure in a dominant-negative manner.[ncbi.nlm.nih.gov]
  • Prevention - Metaphyseal chondrodysplasia Schmid type Not supplied. Diagnosis - Metaphyseal chondrodysplasia Schmid type Not supplied. Prognosis - Metaphyseal chondrodysplasia Schmid type Not supplied.[checkorphan.org]

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