Presented at the International Skeletal Dysplasia Society Meeting. 2013, Available at http://isdsbologna2013.org/blog/presentation/mmp2013-mutations-are-the-cause-of-recessive-metaphyseal-dysplasia-spahr-type/. 8. [nature.com]

Institutional and academic committees 2011-present, Member Research Trainee Advisory Committee, Children's Hospital of Philadelphia 2010-present, Member Division of Endocrinology Fellowship Committee, Children's Hospital of Philadelphia [chop.edu]

The present children showed a transient dip in the growth curve in their late infancy and early childhood. It remains unknown whether this growth decline is an essential part of the present disorder. [dev.docslide.net]

During the first months of life the children present with enlargement of costochondral junctions and knobby wrists. On radiographs the metaphyseal changes of the knees are specific with fine irregularities. [ncbi.nlm.nih.gov]

Acronym MANDP1 Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Short Stature

  This report extends the MANDP phenotype by illustrating that AR nonsense mutations in MMP13 can lead to short stature that persists beyond childhood. [ncbi.nlm.nih.gov]

  Abstract Metaphyseal anadysplasia (MANDP) is an uncommon chondrodysplasia characterized by early-onset metaphyseal dysplasia and short stature that improves with age. [nature.com]

  short stature deafness genital Mental retardation short stature hand contractures genital anomalies Mental retardation short stature heart and skeletal anomalies Mental retardation short stature hypertelorism Mental retardation short stature microcephaly [en.wikipedia.org]

  stature syndrome) CDT1 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC1 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC4 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC6 Meier-Gorlin syndrome (Ear-patella-short [genda.com.ar]

• Pain

  Search Results Test Description Found: 0 Searched: Chronic Joint Pain and Dysfunction via the MMP13 Gene View All Tests View All Panels METHOD KEY Sequencing with CNV PGxome Sequencing PG-Select Sequencing with CNV PG-Select CNV via aCGH Sanger Sequencing [preventiongenetics.com]

  PAROXYSMAL EXTREME PAIN DISORDER GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7 FAMILIAL FEBRILE CONVULSIONS, TYPE 3B Nav beta4 (N168/6) LONG QT SYNDROME 10 Neurexin-1 (N170A/1, N170A/26) PITT-HOPKINS-LIKE SYNDROME TYPE 2 Neuroligin-3 (N110/ [neuromab.ucdavis.edu]

  The proband, patient 1, presented at age 15 years for evaluation of chronic knee pain and skeletal dysplasia. He was 149.8 cm ( Supplementary Figure 1–4 ). Narrowing of the joint space was seen at the knee. [nature.com]

  The MDST phenotype is associated with moderate short stature and knee pain in adults, while extra-skeletal complications are not observed. The sequencing showed that MDST segregated with a c.619T>G single nucleotide transversion in MMP13. [orbilu.uni.lu]

  Other special features may include an outward "flaring" of the lower rib cage, bowed legs, leg pain, a normal spine, and a hip deformity that causes the thigh bone to angle toward the body's center. [encyclopedia.com]

• Fever

  Mandibulofacial dysostosis deafness postaxial polydactyly Manic Depression, Bipolar Manic-depressive psychosis, genetic types Mannosidosis Manouvrier syndrome Mansonelliasis Mantle cell lymphoma Mar [ edit ] Mara–Marg [ edit ] Marashi–Gorlin syndrome Marburg fever [en.wikipedia.org]

• Hair Hypoplasia

  Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. Am J Med Genet 99:289–293. Charrow J, Poznanski AK. 1984. [updoc.site]

  Molecular confirmation of MDST allows distinction of it from dominant conditions (e.g., metaphyseal dysplasia, Schmid type; OMIM # 156500) and from more severe multi-system conditions (such as cartilage-hair hypoplasia; OMIM # 250250) and to give precise [orbilu.uni.lu]

  For McKusick type (cartilage-hair hypoplasia), it is 9p13. In adenosine deaminase deficiency, the locus is 20q-13.11. [encyclopedia.com]

• Platyspondyly

  Changes include metaphyseal irregularity, widening, and sclerosis, and platyspondyly with spinal malalignment (Kozlowski et al. 1980). [rrnursingschool.biz]

  These may include platyspondyly, a broadening of the vertebrae. [encyclopedia.com]

  Metaphyseal dysplasia, also known as Pyle's disease, is a rare recessive bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses, widening of the ribs and clavicles, platyspondyly [blueprintgenetics.com]

  Mild platyspondyly and multiple coronal clefts of the lumbar spine may be present in infancy. Distinctive histologi- cal findings of the cartilage were described in an af- fected individual [Maroteaux et al., 1991]. [dev.docslide.net]

  Regressive evolution Proximal femoral metaphyses most severely affected Normal hand bones Platyspondyly; changes most severe at wrists and knees Changes simulating enchondromatosis Regression over time (after age 2 years) Short and stubby hand bones Hypoplasia [updoc.site]

• Normal Stature

  The prognosis is good as the natural course results in regression of the lesions with normal stature in adulthood. The few reported cases, exclusively in male children, indicated possible X-linked recessive transmission. [ncbi.nlm.nih.gov]

  Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. [uniprot.org]

  Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. Sequence similarities Belongs to the peptidase M10A family. Contains 4 hemopexin-like domains. [abcam.com]

• Severe Short Stature

  short stature that persists into adulthood. 8 Here we report the use of whole-exome sequencing (WES) to identify homozygosity for a nonsense mutation in MMP13 as the basis for AR MANDP in two brothers presenting with short stature, mixed epiphyseal and [nature.com]

  Severe Severe Moderate Severe Moderate Severe Severe Normal height or moderate short stature Normal height Severe Severe Moderate Verloes, variant of CHH Castriota–Scanderbeg, simulating CHH Pen˜a Vaandrager Anadysplasia, type I Anadysplasia, type II [updoc.site]

• Back Pain

  He was of stocky build and occasionally had back pain. Radiographic examination demonstrated end- plate depression of the lumbar vertebral bodies second- ary to notochordal remnants and mild narrowing of the Fig. 1. [dev.docslide.net]

• Suggestibility

  Whole-exome sequencing revealed homozygous mutation in MMP9 in both fetuses suggesting a diagnosis of MANDP. [ncbi.nlm.nih.gov]

  The documentation of two affected sisters suggests genetic heterogeneity or another mode of inheritance. [link.springer.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

Givon U, Schindler A, Ganel A (2001) Hemichondrodiastasis for the treatment of genu varum deformity associated with bone dysplasias. J Pediatr Orthop 21: 238–241 PubMed CrossRef Google Scholar 10. [link.springer.com]

Substances used in the maintenance and treatment of aircraft, including aviation engine oil, hydraulic fluid, cleaning compounds and de-icing fluids, can contaminate the ECS. [wikivisually.com]

A Highly Selective and Orally Bioavailable Matrix Metalloproteinase-13 Inhibitor for the Potential Treatment of Osteoarthritis. Journal of Medicinal Chemistry., 59 (1): 313-327. 8. [guidetopharmacology.org]

The prognosis is good as the natural course results in regression of the lesions with normal stature in adulthood. The few reported cases, exclusively in male children, indicated possible X-linked recessive transmission. [ncbi.nlm.nih.gov]

References: Overexpression of MMP13 is associated with clinical outcomes and poor prognosis in oral squamous cell carcinoma. Vincent-Chong VK, et al. ScientificWorldJournal, 2014. PMID 25401159. [aimplexbio.com]

MDST allows distinction of it from dominant conditions (e.g., metaphyseal dysplasia, Schmid type; OMIM # 156500) and from more severe multi-system conditions (such as cartilage-hair hypoplasia; OMIM # 250250) and to give precise recurrence risks and prognosis [orbilu.uni.lu]

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

[PUBMED Abstract] Wright VC, Chapman W: Intraepithelial neoplasia of the lower female genital tract: etiology, investigation, and management. Semin Surg Oncol 8 (4): 180-90, 1992 Jul-Aug. [cancerinfo.tri-kobe.org]

Epidemiology of Skeletal Health in Type 1 Diabetes. Curr Osteoporos Rep. 2016 Dec;14(6):327-336. PMID: 27744554. 2015 George S, Weber DR, Kaplan P, Hummel K, Monk HM, Levine MA. (2015). [urmc.rochester.edu]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

[…] carcinoma from 25 epidemiological studies. [cancerinfo.tri-kobe.org]

It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [targetexplorer.ingenuity.com]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

The uterine relaxant ef- fect of "2-adrenoceptor agonists, such as terbutaline or fenoterol, can be used to prevent premature labor. [telefericopuertoplata.com]

Alternatively, nonsense-mediated decay of abnormal transcripts would be expected to prevent translation of protein. The variant was submitted to the Leiden Open Variation Database (LOVD, http://MMP13.lovd.nl ). [nature.com]

しかし、著者は“NCI's PDQ cancer information summary about breast cancer prevention states the risks succinctly: 【本要約からの抜粋を含める】.”のような一文を記述してもよい。 [cancerinfo.tri-kobe.org]