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Metaphyseal Chondrodysplasia Type Kaitila


Presentation

  • Edvard Smith, Jennifer Puck Oxford University Press, 2007 - 726 من الصفحات The second edition of Primary Immunodeficiency Diseases presents discussions of gene identification, mutation detection, and clinical and research applications for over 100 genetic[books.google.com]
  • In the present study erythroid, megakaryocyte, and granulocyte-macrophage colony formation in vitro by progenitors from bone marrow and blood was investigated in eight patients with CHH.[scipers.com]
  • Spontaneous and allogeneic culture-induced (mixed lymphocyte response-MLR) specific and nonspecific (NK-like) cytotoxic mechanisms were analyzed and correlated with lymphocyte subpopulations present in CHH and normal individuals.[jci.org]
  • In CHH the growth failure is usually already present at birth and always during the first year of life, as was seen also in both patients in this study, whereas in MCDS short stature is seldom the presenting feature and is not present during the first[mafiadoc.com]
  • These muta-tions were present in the heterozygous state in thefather and in the mother, respectively.[docslide.us]
Short Finger
  • The elder sibling was a 15-year-old girl with short fingers at birth. Later a delay in all motor milestones and a gradual loss of scalp hair were noticed. She was attending school and was an average performer.[indianpediatrics.net]
  • finger Acne Epicanthus Hyperplasia of the maxilla Cognitive impairment Cortical irregularity Anterior concavity of thoracic vertebrae Serpentine fibula Flexion contracture of finger Multiple skeletal anomalies Broad nail Broad clavicles Lumbar kyphosis[mendelian.co]
  • It is an autosomal recessive disorder with marked rhizomelic shortening of the extremities, genu vara, short fingers with marked ligamentous laxity of finger joints.[documents.tips]
  • […] calcification SKELETAL: [Spine]; Kyphoscoliosis; Hypoplastic cervical vertebrae; Cervical kyphosis; [Pelvis]; Hip contractures; [Limbs]; Short, thick tubular bone, with broad metaphyses and flattened, irregular epiphyses; Subluxed patella; [Hands]; Short[genome.jp]
  • He has short limbed short stature with short fingers and no obvious hair hypoplasia. RMRP mutations in Schmid metaphyseal chondrodysplasia 743 and mild hyperlaxity at the wrists and fingers. The spine was straight and skull shape was normal.[mafiadoc.com]
Increased Susceptibility to Infections
  • susceptibility to infections and, in certain conditions, an icreased rate of malignancies and autoimmune disorders.[books.google.com]
  • Defective cellular immunity had been observed in 88% and increased susceptibility to infections in 56% of the patients. Six patients had died of primary infections. The incidence of malignancies was 6%.[link.springer.com]
  • In two studies, increased susceptibility to infections was reported in only 31-56% of individuals with cartilage-hair hypoplasia. [15, 14] In addition, infections may be limited to varicella and may occur in early childhood.[emedicine.medscape.com]
Fatigue
  • Treatment HME begins to manifest itself in childhood and currently has no cure.Surgery, physical therapy and pain management are currently the only options available to HME patients, but success varies from patient to patient and many struggle with pain, fatigue[dictionnaire.sensagent.leparisien.fr]
Short Nails
  • Short nail MedGen UID: 140850 • Concept ID: C0423808 • Finding Decreased length of nail. Broad nail MedGen UID: 375097 • Concept ID: C1843112 • Finding Increased width of nail.[ncbi.nlm.nih.gov]
Short Extremities
  • Micromelia MedGen UID: 10031 • Concept ID: C0025995 • Congenital Abnormality The presence of abnormally small extremities. short extremities MedGen UID: 116086 • Concept ID: C0239399 • Finding Absence (due to failure to form) or underdevelopment of the[ncbi.nlm.nih.gov]
  • Patient I at 18 yr of age presenting with severe disproportionate short stature, short extremities, Fig. 1B. The back of patient I demonstrating the scoliosis preoperatively.[documents.tips]
Narrow Chest
  • Narrow chest MedGen UID: 96528 • Concept ID: C0426790 • Finding Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.[ncbi.nlm.nih.gov]

Treatment

  • Since the publication of the first edition, a flurry of new disease entities has been defined and new treatment regimens have been introduced, the most spectacular being successful treatment by gene therapy for two genotypes of combined immunodeficiency[books.google.com]
  • Res. (2010) [ Pubmed ] Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets. Makitie, O., Toiviainen-Salo, S., Marttinen, E., Kaitila, I., Sochett, E., Sipila, I. Horm.[wikigenes.org]
  • You can help by adding to it. ( May 2017 ) Treatment [ edit ] This section needs expansion. You can help by adding to it. ( May 2018 ) A verified treatment for this disease is yet to be discovered.[en.wikipedia.org]

Prognosis

  • , McKusick type Cartilage Hair Hypoplasia Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours Excellent overview of these conditions including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis[lpamrs.memberclicks.net]
  • PMID 9584003 Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. Mäkitie O, Heikkinen M, Kaitila I, Rintala R Journal of pediatric surgery. 2002 ; 37 (11) : 1585-1588. PMID 12407544 DWARFISM IN THE AMISH. II.[atlasgeneticsoncology.org]
  • The risks and the probably poor longterm prognosis were considered to markedly exceed the possible benefits of a reoperation.[documents.tips]
  • Non-Hodgkin lymphoma often has a poor prognosis with conventional cytotoxic protocols [ Taskinen et al 2008 ]. Endocrine. Pubertal maturation may be delayed and may require hormonal induction.[ncbi.nlm.nih.gov]

Etiology

  • The etiology of this rare form has not been established, but it does not result from mutations COL1A1(I) or COL1A2(I) which are the responsible disease genes for most dominant forms of OI.[nature.com]

Epidemiology

  • Mäkitie O (1992) Cartilage-hair hypoplasia in Finland-epidemiologic and genetic aspects in 107 patients. J Med Genet (in press) Google Scholar 17. Mäkitie O, Perheentupa J, Kaitila I (1992) Growth in cartilage-hair hypoplasia.[link.springer.com]
  • Mäkitie O (1992) Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. J Med Genet 29:652–655 CrossRef PubMedCentral PubMed 16. Mäkitie O, Sulisalo T, de la Chapelle A, Kaitila I (1995) Cartilage-hair hypoplasia.[springermedizin.de]
  • Epidemiology Frequency United States Cartilage-hair hypoplasia is a rare defect. It has been described in both Amish and non-Amish populations.[emedicine.medscape.com]
  • Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. J Med Genet. 1992; 29 :652–5. [ PMC free article : PMC1016098 ] [ PubMed : 1404295 ] Mäkitie O, Kaitila I.[ncbi.nlm.nih.gov]
  • Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep 2007; 5 : 91–97. 57. Sillence DO. Osteogenesis imperfecta nosology and genetics. Ann N Y Acad Sci 1988; 543 : 1–15. 58. Madigan WP, Wertz D, Cockerham GC, Thach AB.[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology HME is estimated to occur in 1 in 50,000 people. It is characterized by the growth of cartilage-capped benign bone tumours around areas of active bone growth, particularly the metaphysis of the long bones.[dictionnaire.sensagent.leparisien.fr]
  • Physiology and pathophysiology of the growth plate. Birth Defects Res C Embryo Today 2003; 69 : 123–143. 5. Ballock RT, O'Keefe RJ. The biology of the growth plate. J Bone Joint Surg Am 2003; 85 : 715–726. 6.[nature.com]
  • Pathophysiology The genetic defect in cartilage-hair hypoplasia has been identified as a mutation in the gene for RNAase RMRP, mapped to 9p12. [3, 4, 5, 6, 7, 8, 9, 52, 56] RMRP is a ribonucleoprotein present in the nucleus and mitochondria.[emedicine.medscape.com]
  • In rare instances autoimmune complications and a form of severe allergic reaction have been observed in CHH; however, the pathophysiology is still unknown [ Bacchetta et al 2009 , Narra & Shearer 2009 ].[ncbi.nlm.nih.gov]

Prevention

  • Matrix Biol 17: 169-184 Chan D, Weng YM, Golub S, Bateman JF (1996a) Type X collagen NC1 mutations produced by site-directed mutagenesis prevent in vitro assembly.[dokument.tips]
  • Varicella-zoster infection after allogeneic bone marrow transplantation: incidence, risk factors and prevention with low-dose aciclovir and ganciclovir. Bone Marrow Transplant. Mar 2000. 25(6):657-64. [Medline]. Thiel CT.[emedicine.medscape.com]
  • The word medicine is derived from Latin medicus, meaning a physician, Medicine encompasses a variety of health care practices evolved to maintain and restore health by the prevention and treatment of illness.[wikivisually.com]
  • Immediate antiviral treatment with intravenous high-dose acyclovir must be considered at the first symptoms of varicella infection to prevent complications.[ncbi.nlm.nih.gov]
  • Efforts to treat or prevent complications such as obesity, hydrocephalus, obstructive sleep apnea, middle ear infections, or spinal stenosis may be required. Life expectancy of those affected is about 10 years less than average.[howlingpixel.com]

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