Symptoma

Spondyloepimetaphyseal Dysplasia Type Matrilin-3

MATN3-Related SEMD

* The documents contained in this web site are presented for information purposes only. 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]

Susanne Grässel, Attila Aszódi Springer, 25.01.2017 - 261 Seiten In three Volumes this mini book series presents current knowledge and new perspectives on cartilage as a specialized yet versatile tissue. [books.google.de]

[…] dysplasia. ( 11666005 ) Bieganski T...Kozlowski K 2001 38 A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia. ( 10319195 ) Slaney SF...Winter RM 1999 39 Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation [malacards.org]

[…] an unusual formof SEMDwith epimetaphyseal anomaliesmainly present in the tubular bonesof the lower limbs. [docslide.com.br]

  • Physician

    In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

    This chapter provides the primary-care physician with a basic understanding of skeletal dysplasias and presents the major clinical and radiographic features and complications of the more commonly encountered disorders. [musculoskeletalkey.com]

  • Short Finger

    finger Abnormality of epiphysis morphology Flexion contracture Elevated serum creatine phosphokinase Spondyloepiphyseal dysplasia Arthralgia Hypoplasia of the odontoid process Progressive Proximal muscle weakness Skeletal muscle atrophy Hip osteoarthritis [mendelian.co]

  • Eczema

    […] dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset. ( 12401991 ) de Ravel TJ...Fryns JP 2002 37 Rhizomelic spondyloepimetaphyseal dysplasia. ( 11666005 ) Bieganski T...Kozlowski K 2001 38 A new syndrome of spondyloepimetaphyseal dysplasia, eczema [malacards.org]

  • Brachydactyly

    […] spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. ( 30124491 ) 2019 2 Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly [malacards.org]

    Symphalangism brachydactyly craniosynostosis, Symphalangism distal, Symphalangism familial proximal, Symphalangism short stature accessory testis, Symphalangism with multiple anomalies of hands and feet, Symphalangism distal with microdontia dental [yumpu.com]

    […] heterozygous parents of those with Robinow syndrome do not have brachydactyly. 18, 19 Similarly, heterozygous IHH mutations cause brachydactyly type A1 (BDA1), whereas homozygous mutations cause acrocapital femoral dysplasia (ACFD) with no manifestations [jmg.bmj.com]

  • Platyspondyly

    Spondyloepimetaphyseal dysplasia Matrilin-3 related may include: Spondyloepimetaphyseal dysplasia Dysplasia Disproportionate short-limb short stature Flat acetabular roof Irregular epiphyses Lumbar hyperlordosis Metaphyseal widening Micromelia Ovoid vertebral bodies Platyspondyly [familydiagnosis.com]

    […] epiphyses Irregular end part of long bone 0010582 Metaphyseal spurs 0005054 Metaphyseal widening Broad wide portion of long bone 0003016 Micromelia Smaller or shorter than typical limbs 0002983 Narrow iliac wings 0002868 Ovoid vertebral bodies 0003300 Platyspondyly [rarediseases.info.nih.gov]

    Skeletal radiographies show platyspondyly and charac-teristic vertebral body shape with central indentation of end-plates, progressive, and severe metaphyseal changes, very smalland irregular proximal femoral epiphyses with severe coxa vara,absence of [docslide.com.br]

    Spine and Pelvis  Platyspondyly 42 43. [slideshare.net]

    Often, the patients may develop the spine impairment, such as mild platyspondyly or other abnormalities of the vertebral body. 2.1.2.5. [intechopen.com]

  • Disproportionate Dwarfism

    Someone with SEMD, MATN3-related will have early-onset disproportionate dwarfism. This means that they will be shorter than most other people. They will also have body parts that are too large or small compared to their body size. [diseaseinfosearch.org]

    dwarfism with similar clinical and radiological features. [jmg.bmj.com]

    •Thanatophoric dysplasia is characterized by disproportionate dwarfism with very short extremities, which are bowed in type 1 and may be 66. •The trunk length is normal, but the thorax is narrow. [slideshare.net]

  • Short Extremities

    Note the short extremities, relatively normal hands, flat facies, and exaggerated lordosis. Skeletal radiographs of the newborn reveal short tubular bones, delayed ossification of vertebral bodies, and proximal limb bone epiphyses ( Fig. 686-3 ). [clinicalgate.com]

    •Thanatophoric dysplasia is characterized by disproportionate dwarfism with very short extremities, which are bowed in type 1 and may be 66. •The trunk length is normal, but the thorax is narrow. [slideshare.net]

  • Extension of Elbows Limited

    Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 Waddling gait 'Waddling' gait [rarediseases.info.nih.gov]

Elsevier Health Sciences, ٠٨‏/٠٤‏/٢٠١٤ - 224 من الصفحات This issue of Clinics in Sports Medicine will include the diagnosis and treatment of Osteochondritis Dissecans in athletes. [books.google.com]

There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you. [rarediseases.info.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]

If you or a family member has been diagnosed with SEMD, MATN3-related, talk to your doctor about the most current treatment options. Support groups are also good sources of support and information. [diseaseinfosearch.org]

Prognosis - Spondyloepimetaphyseal dysplasia with multiple dislocations Not supplied. [checkorphan.org]

Full text article available by contacting [email protected] Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children. [lpamrs.memberclicks.net]

All recessive forms of MED are related to mutations in SLC26A2 and involve the peripheral joints. [15] Prognosis Few investigators have described the outcomes of surgical treatment for MED. [emedicine.medscape.com]

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]

•Prognosis is extremely poor, with severe mental retardation, spastic tetraplegia, and thermoregulatory instability. •Radiologic features include very short humeri and relatively short femora with some metaphyseal splaying. [slideshare.net]

Etiology It is caused by mutation in the matrilin-3 gene ( MATN3, 2p24-p23) and transmitted in an autosomal recessive manner. * The documents contained in this web site are presented for information purposes only. [orpha.net]

Etiology It is caused by mutation in the matrilin-3 gene ( MATN3, 2p24-p23) and transmitted in an autosomal recessive manner. * Last updated: 11/15/2009 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

ORPHA:156728 Synonym(s): SEMD, MATN3-related SEMD, matrilin-3 type Prevalence: Inheritance: Autosomal recessive Age of onset: Antenatal, Neonatal ICD-10: Q77.7 OMIM: 608728 UMLS: C1837481 MeSH: - GARD: 10611 MedDRA: - Summary Epidemiology The syndrome [orpha.net]

Epidemiology The syndrome has been described in a large consanguineous Arab Muslim family. [rarediseases.info.nih.gov]

Cartilage Physiology and Pathophysiology 190 Intervertebral Disc Degeneration 229 Urheberrecht Häufige Begriffe und Wortgruppen Über den Autor (2017) Editors: Prof. [books.google.de]

Pathophysiology Cartilage oligomeric matrix protein (COMP) and matrilin-3 (MATN3) are thought to bridge extracellular matrix proteins. Collagen IX is important for the adhesive properties of cartilage. [emedicine.medscape.com]

[…] dysplasia with multiple dislocations * Abnormal bone growth * Broad chest * Large head * Limited elbow extension * Long thin fingers * Loose joints * Low set ears * Osteoporosis * Prominent forehead * Saddle nose * Scoliosis * Short neck * Short stature Prevention [checkorphan.org]

(PMID: 15523498) Jakkula E … Ala-Kokko L (European journal of human genetics : EJHG 2005) 3 22 45 60 Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. [genecards.org]

"Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3". Hum. Mutat. 26 (6): 557–65. doi : 10.1002/humu.20263. PMC 2726956. PMID 16287128. [en.wikipedia.org]

PubMeb:15948199 DOI:10.1002/ajmg.a.30832 "Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding ofthe A-domain and prevent secretion of mutant matrilin-3.";,Cotterill S.L., Jackson G.C., Leighton M.P., Wagener R., Maekitie O. [genscript.com]

Studies have shown that individuals who have more severe mutations (for example, premature stop codons or a substitution of a glycine) that prevent a pro-alpha 1 or a pro-alpha 2 chain from being formed typically have a milder form of OI (OI type I or [musculoskeletalkey.com]