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Spondylo-Megaepiphyseal-Metaphyseal Dysplasia


Presentation

  • […] dysplasia Disease definition Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present[orpha.net]
  • Eight patients are presented who have a generalized bone dysplasia that resembles severe cleidocranial dysplasia but lacks the cranial and clavicular features of that well-defined condition.[ncbi.nlm.nih.gov]
  • Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.[books.google.com]
  • Education & Training Certifications & Licensure CA State Medical License 1980 - 2018 Publications & Presentations Press Mentions Viewing the full profile is available to verified healthcare professionals only. Join over one million U.S.[doximity.com]
  • Clinical symptoms are present at birth or become apparent in early infancy, and consist in febrile arthritis associated with an evanescent rush, lym-phadenopathy, leukocytosis, anemia, elevated sedimentation rate, chronic meningitis, cerebrospinal fluid[rrnursingschool.biz]
Short Stature
  • OMIM : 57 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of[malacards.org]
  • Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is an autosomal recessive skeletal dysplasia, characterized by disproportionate short stature with a short and stiff neck and trunk.[ncbi.nlm.nih.gov]
  • Homepage Rare diseases Search Search for a rare disease Spondylo-megaepiphyseal-metaphyseal dysplasia Disease definition Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature[orpha.net]
  • Spondylo-megaepiphyseal-metaphyseal dysplasia ( SMMD ; MIM 613330) is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk.[ctgt.net]
Dysostosis
  • Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD; OMIM 613330) is a dysostosis/dysplasia caused by recessive mutations in the homeobox-containing gene, NKX3-2 (formerly known as BAPX1).[ncbi.nlm.nih.gov]
  • Achondrogenesis Acrodysostosis, with or without hormone resistance Acromelic frontonasal dysostosis Acromesomelic dysplasia, Maroteaux type ADULT syndrome, split hand-foot malformation Alacrima, achalasia and mental retardation syndrome Alagille syndrome[qlinics.com]
  • Mandibulofacial dysostosis with microcephaly Dysostoses with predominant vertebral with and without costal involvement These include the following conditions: Currarino triad Spondylocostal dysostosis Vertebral segmentation defect Klippel Feil anomaly[emedicine.medscape.com]
  • Achondrogenesis type 2 (COL2A1) Cost: 30000.00 Test Offer Acrodysostosis type 1 with or without hormone resistance (PRKAR1A) Cost: 30000.00 Test Offer Acromelic frontonasal dysostosis (ZSWIM6) Cost: 30000.00 Test Offer Acromesomelic dysplasia Maroteaux[dnalabsindia.com]
  • Hereditary Rickets Section XIX Lysosomal Storage Diseases with Skeletal Involvement (Dysostosis multiplex) 132.[amazon.cn]
Sepsis
  • In the post-operative period he developed sepsis and respiratory failure and he died on postnatal day 14.[ncbi.nlm.nih.gov]
Collapse
  • The SLAC wrist: scapholunate advanced collapse pattern of degenerative Arthritis. J Hand Surg [Am] 1984: 9-A:358-65. ‎ Seite 308 - Arnett FC, Edworthy SM, Bloch DA. McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS.[books.google.de]
Respiratory Insufficiency
  • Although no neuroradiologic imaging could be performed, the findings of clubfoot, neuromuscular respiratory insufficiency requiring invasive mechanical ventilation and downward sloping or tented appearance of the ribs were suggestive of very early cervical[ncbi.nlm.nih.gov]
Skeletal Dysplasia
  • OMIM : 57 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of[malacards.org]
  • Although the number of individuals observed is small, the high incidence of cervical spine deformation in SMMD is unique among skeletal dysplasias.[ncbi.nlm.nih.gov]
  • Taybi H, Lachman RS (1996) Radiology of syndromes, metabolic disorders, and skeletal dysplasias, 4th edn. Mosby, St Louis, pp 928–929 Google Scholar 6.[link.springer.com]
Flexion Contracture
  • OMIM : 57 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of[malacards.org]
  • Disease definition Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion[orpha.net]
  • Some patients have flexion contractures of the distal joints. read more NGS/Del Dup Comprehensive Turnaround Time: Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.[ctgt.net]
  • The limbs appear relatively long and may show flexion contractures of the distal joints.[ncbi.nlm.nih.gov]
  • contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones[genecards.org]
Arthritis
  • Wilder RL, Hunder GG: The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. ‎[books.google.de]
  • Clinical symptoms are present at birth or become apparent in early infancy, and consist in febrile arthritis associated with an evanescent rush, lym-phadenopathy, leukocytosis, anemia, elevated sedimentation rate, chronic meningitis, cerebrospinal fluid[rrnursingschool.biz]
  • People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life. Severe high-tone hearing loss is common.[ipfs.io]
  • Malignant pleural mesothelioma Immune system diseases Allergies and autoimmune diseases Asthma Systemic lupus erythematosus Hashimoto’s thyroiditis Graves’ disease Allograft rejection Graft-versus-host disease Extrinsic allergic alveolitis (EAA) Rheumatoid arthritis[csirnotes.com]
Macrocephaly
  • Affiliated tissues include bone , and related phenotypes are macrocephaly and hypertelorism UniProtKB/Swiss-Prot : 75 Spondylo-megaepiphyseal-metaphyseal dysplasia: A skeletal dysplasia characterized by disproportionate short stature with a short and[malacards.org]
  • […] bile acid biosynthesis hsa03320 PPAR signaling pathway hsa04146 Peroxisome H00875 Megaloencephalic leukoencephalopathy with subcortical cysts Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by macrocephaly[kegg.jp]
  • Lathosterolosis Spermatogenic failure Microtia hearing impairment and cleft palate (MHICP) Mosaic variegated aneuploidy (MVA) syndrome Mulibrey nanism Nance-Horan syndrome Global cerebral hypomyelination Nonsyndromic congenital nail disorder (NDNC) Macrocephaly[csirnotes.com]
Hypertelorism
  • Affiliated tissues include bone , and related phenotypes are macrocephaly and hypertelorism UniProtKB/Swiss-Prot : 75 Spondylo-megaepiphyseal-metaphyseal dysplasia: A skeletal dysplasia characterized by disproportionate short stature with a short and[malacards.org]
  • Weissenbacher-Zweymuller syndrome (WZS) is a genetic form of dwarfism in which affected individuals are born with small, underdeveloped jaws (micrognathia), cleft palate, short arms and legs (rhizomelia), "dumbbell" shaped arm and leg bones, protruding wide spaced eyes (hypertelorism[encyclopedia.com]
  • […] metabolism hsa00330 Arginine and proline metabolism H00850 Frontorhiny Median facial cleft syndrome Frontonasal dysplasia 1 Frontorhiny, also known as median facial cleft syndrome, is a recently characterized autosomal recessive frontonasal malformation with hypertelorism[kegg.jp]
  • Autosomal dominant inheritance is seen...Median cleft facial syndrome (frontonasal dysplasia; hypertelorism of Greig). Widely spaced eyes, broad nasal root, cleft nose and premaxilla, V-shaped frontal hairline, heterotypic anterior... Chapter 6.[homeopathyworldcommunity.ning.com]
Suggestibility
  • Although no neuroradiologic imaging could be performed, the findings of clubfoot, neuromuscular respiratory insufficiency requiring invasive mechanical ventilation and downward sloping or tented appearance of the ribs were suggestive of very early cervical[ncbi.nlm.nih.gov]
  • […] advanced by the series of summaries of the dysplasias and other syndromes; this section contains all of the con ditions listed in the International Nomenclature, plus others, and provides confirmation or exclusion of possible diagnoses and appropriate suggestions[books.google.com]
  • Physical, occupational, speech, and language therapy may be suggested to help reduce "catch-up" time and developmental delays.[encyclopedia.com]
  • Some researchers have suggested that the name OSMED be used as a general heading to consist of "heterozygous OSMED," which encompasses Weissenbacher-Zweymuller syndrome and Stickler syndrome type III and is inherited as an autosomal dominant trait, and[rarediseases.org]
Neurologic Manifestation
  • Neurological manifestations resulting from cervical spine instability may be observed.[orpha.net]
  • Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. Am J Med Genet C Semin Med Genet. 2012;160C: 230–7. 1. WebImagem, São Paulo, SP, Brazil 2.[rb.org.br]
Confusion
  • It is pleasing to see how this terminology is being accepted in the world literat ure, with a re duction in the confusion previously engendered by different usages. Readers of the book will find more than bare gamut listings.[books.google.com]
  • In the 1970s and 1980s there was some confusion among geneticists who were uncertain if WZS is a separate syndrome or part of another genetic syndrome.[encyclopedia.com]
Cervical Cord Compression

Treatment

  • 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]
  • However, a few patients did not reach this favorable outcome despite early and adequate treatment.[jci.org]
  • Standard Therapies Treatment The treatment of homozygous OSMED is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[rarediseases.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.[uniprot.org]

Prognosis

  • Prognosis The chance for an individual affected by WZS to have normal physical, motor, mental, and school development by age six or seven is very good.[encyclopedia.com]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]

Epidemiology

  • Relevant External Links for NKX3-2 Human Genome Epidemiology (HuGE) Navigator NKX3-2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: NKX3-2 No data available for Genatlas for NKX3-2 Gene Sequence and chromosomal assignment of human BAPX1[genecards.org]
  • Epidemiology The frequency of this disorder is unknown, but it is very rare. Only a few families with the condition have been reported.[ipfs.io]
  • You can help by adding to it. ( December 2017 ) Epidemiology [ edit ] The frequency of this disorder is unknown, but it is very rare. Only a few families with the condition have been reported. References [ edit ] Reference, Genetics Home. "OSMED".[en.wikipedia.org]
  • […] short stature - hearing loss Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
Sex distribution
Age distribution

Pathophysiology

  • Investigator: Geert Mortier General goals for this research line are: - to identify genes that are important in the regulation of linear growth, endochondral - to explore the phenotypic consequences of mutations in these genes - to gain more insights in the pathophysiology[uantwerpen.be]
  • Pathophysiology Otospondylomegaepiphyseal dysplasia has an autosomal recessive pattern of inheritance. Mutations in the COL11A2 gene cause otospondylomegaepiphyseal dysplasia.[ipfs.io]
  • Pathophysiology [ edit ] Mutations in the COL11A2 gene cause otospondylomegaepiphyseal dysplasia. The protein made by the COL11A2 gene is involved in the production of type XI collagen.[en.wikipedia.org]

Prevention

  • Early diagnosis of SMMD by recognition of the radiographic pattern might prevent of the neurologic complications via prophylactic cervical spine stabilization. Copyright 2012 Wiley Periodicals, Inc.[ncbi.nlm.nih.gov]
  • Elderly males are more prone to this mutation during spermatogenesis while females have some regulatory mechanism that prevents the mutation during oogenesis.[homeopathyworldcommunity.ning.com]

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