Acronym SEMD-MO Synonyms Spondyloepimetaphyseal dysplasia type 2 Spondyloepimetaphyseal dysplasia type Missouri Spondylometaepiphyseal dysplasia type Missouri Any medical or genetic information present in this entry is provided for research, educational [uniprot.org]

In addition, MMP-13 contains in its amino acid sequence several residues specific to the collagenase subfamily (Tyr-214, Asp-235, and Gly-237) and lacks the 9-residue insertion present in the stromelysins (Freije J.M. et al., 1994). [genwaybio.com]

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]

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]

Practical tables provide a quick reference to essential information, including normal developmental anatomic milestones, developmental anomalies, common presentations and symptoms of diseases, and much more. 400 new and replacement images are added to [books.google.com]

• Pain

  Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. [littlepeopledoc.com]

  Still’s disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still’s disease may lead to chronic arthritis and other complications. [checkrare.com]

  Hip dysplasia : The most common sign of hip dysplasia is hip pain. There may also be a snapping noise in the hip or aching pain in the groin that lasts for months. [medicalnewstoday.com]

  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]

  Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. [ncbi.nlm.nih.gov]

• Dysostosis

  […] spondylocostal dysostosis type 4 Spondylocostal Dysostosis, Autosomal Recessive Spondylocostal Dysostosis, Autosomal Recessive 1 spondylodymus spondylodynia spondyloepimetaphyseal dysplasia Missouri type Spondyloepimetaphyseal Dysplasia with Joint Laxity [medical-dictionary.thefreedictionary.com]

  Average age of death: - Type of inheritance: autosomal dominant External references: 1 OMIM reference - No MeSH references Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Dysostosis [csbg.cnb.csic.es]

  Wiedemann HR, Spranger J : Chondrodysplasia metaphysaria (dysostosis metaphysaria) – ein neur typ? Z Kinderheilk 1970; 108 : 171–186. 4. [nature.com]

• Swelling

  […] multiple epiphyseal dysplasia are born with at least one abnormal feature, including an inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth (cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear swelling [littlepeopledoc.com]

• Coxa Vara

  Spondyloepimetaphyseal dysplasia Missouri type: A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum [malacards.org]

  [from SNOMEDCT_US] From HPO Coxa vara MedGen UID: 116081 •Concept ID: C0239138 • Anatomical Abnormality Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees [ncbi.nlm.nih.gov]

  An autosomal dominant (OMIM:602111) bone disease characterised by moderate to severe metaphyseal changes, mild epiphyseal involvement (both of which improve with age), rhizomelic shortening of the legs with femoral and/or tibial bowing, coxa vara, genu [medical-dictionary.thefreedictionary.com]

  Definition A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood [uniprot.org]

• Joint Stiffness

  […] mobility / joint stiffness / ankylosis [csbg.cnb.csic.es]

  Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. [ncbi.nlm.nih.gov]

  Skeletal dysplasia : In dwarfism, a person may have short stature or slow growth, an unusually large head, short limbs, joint stiffness, curved bones, and crowded teeth. Other types affect the body in different ways. [medicalnewstoday.com]

• Extension of Elbows Limited

  elbow extension Decreased elbow extension Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Metaphyseal cupping 0003021 Platyspondyly Flattened vertebrae [rarediseases.info.nih.gov]

• Decrease in Height

  […] body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Limitation of joint mobility Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ] 0001376 Percent of people who have [rarediseases.info.nih.gov]

• Myopathy

  Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO [mseqdr.org]

  Waddling gait MedGen UID: 66667 •Concept ID: C0231712 • Finding Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. [ncbi.nlm.nih.gov]

• Waddling Gait

  gait 'Waddling' gait Waddling walk [ more ] 0002515 Showing of 27 | Last updated: 3/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

  The gait appears waddling. [ncbi.nlm.nih.gov]

  Physical examination was notable for coxa vara, genu vara, pes planus and a waddling gait. Bone age obtained at 6 years and 11 months was 6 years (SD of 8.9 months). [nature.com]

Treatment Diagnosis and treatment will depend on the type of dysplasia. Most treatments focus on reducing the symptoms, and some are specific to the type of dysplasia. Some common treatments are listed below. [medicalnewstoday.com]

To meet your child’s more complex needs requires ongoing coordinated treatment by specialists in the field. [muhealth.org]

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

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]

[…] expression of this protein can serve as a marker for tumor invasiveness, as its expression is induced during metastasis of multiple types of cancers, including squamous cell carcinomas of the head and neck, and this expression is usually linked to poor prognosis [sigmaaldrich.com]

irregular rib ends Flattened epiphysis Genu varum Irregular sclerotic endplates Metaphyseal cupping Osteoarthritis Pear-shaped vertebrae Platyspondyly Small epiphyses Spondyloepimetaphyseal dysplasia Abnormality of the nervous system Waddling gait Prognosis [ncbi.nlm.nih.gov]

Etiology This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner. The documents contained in this web site are presented for information purposes only. [orpha.net]

All cases are sporadic, and the etiology remains unknown. Distinctive features of DSC are anisospondyly and enchondroma-like lesions in the metaphyseal and diaphyseal portions of the long tubular bones. [unboundmedicine.com]

Etiology This condition is caused by mutation in the MMP13 gene ( locus 11q22.3) and transmitted in an autosomal dominant manner. Last updated: 11/15/2009 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

Summary Epidemiology The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations. [orpha.net]

Spondyloepimetaphyseal dysplasia type 2 Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Epidemiology The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations. [rarediseases.info.nih.gov]

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. [mybiosource.com]

Our multidisciplinary approach provides a forum for diagnosis, prevention and treatment. Most children who attend the Missouri Skeletal Dysplasia Clinic are seen on a regular basis, depending on individual needs. [muhealth.org]

Unfortunately, it is not possible to prevent all types of dysplasia but avoiding some risk factors may help in some cases. Dysplasia can occur in any area of the body. It can also accompany other disorders. [medicalnewstoday.com]

Abnormal collagen prevents bones and other connective tissues from developing properly, which leads to the signs and symptoms of spondyloepimetaphyseal dysplasia, Strudwick type. [medlineplus.gov]

Medical care for individuals with skeletal dysplasia should be directed at preventing neurologic and orthopedic complications due to spinal cord compression, joint instability, and long bone deformity. [emedicine.medscape.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]