Symptoma

Jansen's Metaphyseal Chondrodysplasia

Metaphyseal Chondrodysplasia, Jansen Type

Five of these patients presented in infancy with radiographic metaphyseal changes similar to rickets, but with preservation of the provisional zone of calcification. [ncbi.nlm.nih.gov]

There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of bisphosphonates. It is named for Murk Jansen (1867–1935), a Dutch orthopedic surgeon. [en.wikipedia.org]

Abstract The fourteenth reported patient with Murk Jansen's metaphyseal chondrodysplasia is presented, with a remarkable followup from birth to the age of 15 years. [doi.org]

  • Tachypnea

    The infant had tachypnea and cyanosis due to micrognathia, which were relieved by oral intubation. Except for marked bowing of both femurs, no other abnormalities were noted on physical examination. [content.nejm.org]

  • Anhidrosis

    […] syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis [ipfs.io]

    Pfeiffer syndrome, Crouzon syndrome, Jackson-Weiss syndrome ) · FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) · INSR ( Donohue syndrome · Rabson–Mendenhall syndrome) · NTRK1 ( Congenital insensitivity to pain with anhidrosis [en.academic.ru]

  • Short Hands

    hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. [orpha.net]

    JMC is usually characterized by short stature, bowed legs, waddling gait, contracture deformities of the joints, and short hands with clubbed fingers. Until now, four distinct mutations in PTH1R have been described in patients affected by JMC. [iofbonehealth.org]

    hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.Visit the Orphanet disease page for more resources. [malacards.org]

    hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone -independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. [rarediseases.info.nih.gov]

  • Normal Stature

    In contrast, the three affected members of this new family showed only mild skeletal dysplasia, comparatively normal stature, and blood calcium concentrations either within or at the upper end of the normal range. [ncbi.nlm.nih.gov]

  • Hearing Impairment

    impairment Deafness Hearing defect [ more ] 0000365 Hip contracture 0003273 Hypercalcemia High blood calcium levels Increased calcium in blood [ more ] 0003072 Hypercalciuria Elevated urine calcium levels 0002150 Hyperphosphaturia High urine phosphate [rarediseases.info.nih.gov]

  • Waddling Gait

    […] type Disease definition Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling [orpha.net]

    MalaCards based summary : Metaphyseal Chondrodysplasia, Jansen Type, also known as metaphyseal chondrodysplasia, murk jansen type, is related to extraskeletal chondroma and sclerosing hepatic carcinoma, and has symptoms including waddling gait An important [malacards.org]

    gait * Clinodactyly * Short fingers * Clubbed fingers * Hyperostosis of calvarium * Thick dense skull base * Hypercalcemia * Deafness * Short long bones * Bowed long bones Causes - Jansen type metaphyseal chondrodysplasia Not supplied. [checkorphan.org]

    gait 'Waddling' gait Waddling walk [ more ] 0002515 Showing of 31 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

  • Hypercholesterolemia

    CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia [ipfs.io]

    · TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP: LRP2 ( Donnai-Barrow syndrome ) · LRP4 ( Cenani Lenz syndactylism ) · LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia [en.academic.ru]

Treatment with alendronate reduced hypercalciuria; however, normocalciuria was only obtained with the association of thiazide diuretic. Serum FGF23 levels, measured under alendronate treatment, were repeatedly within the normal range. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

Treatment - Jansen type metaphyseal chondrodysplasia There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of bisphosphonates. [checkorphan.org]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Prognosis - Jansen type metaphyseal chondrodysplasia Not supplied. [checkorphan.org]

Prognosis In many cases, patients with metaphyseal dysplasia may be symptomless and very healthy. [encyclopedia.com]

Relevant External Links for PTH1R Genetic Association Database (GAD) PTH1R Human Genome Epidemiology (HuGE) Navigator PTH1R Atlas of Genetics and Cytogenetics in Oncology and Haematology: PTH1R No data available for Genatlas for PTH1R Gene Structural [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]

Historical Perspective It is named for Murk Jansen. [1] [2] Pathophysiology Jansen's metaphyseal chondrodysplasia is caused by constitutively active mutations in the parathyroid hormone-1 receptor on chromosome 3p21. [wikidoc.org]

Molecular and Systemic Pathophysiology PTHR1 encodes the receptor for both parathyroid hormone (PTH) and PTH-related peptide (PTHrP) [ 2 ]. [link.springer.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 - Jansen type metaphyseal chondrodysplasia Not supplied. Diagnosis - Jansen type metaphyseal chondrodysplasia Not supplied. Prognosis - Jansen type metaphyseal chondrodysplasia Not supplied. [checkorphan.org]

“Research is critical and so is preventing Washington from putting bureaucratic layers between patients and cures,” said Senator Sasse in a written statement. Neena’s story struck a chord in Washington, with researchers and legislators alike. [kcrg.com]

It is painful, but it helps build up their muscle tone, which hopefully will prevent their bones from bending too much. Jahaan seems to be responding well, but I’m not sure if it’s too late for Arshaan. [fridaymagazine.ae]