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242 Possible Causes for Desbuquois Dysplasia, Osteoporosis, Thick Lips

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    (Spondyloepiphyseal dysplasia, Rolland - Desbuquois dysplasia, Wolcott-Rallisson syndrome, Dyggve-Melchior-Clausen syndrome) Heterogeneous group of rare disorders, characterized[sites.uclouvain.be] There are no life-threatening causes of osteoporosis . However, complications resulting from untreated osteoporosis are common.[wikidoc.org] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 5%-29% of people have these symptoms Cataract Clouding of the lens[rarediseases.info.nih.gov]

  • Winchester Syndrome

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] Phenotype Torg syndrome (includes NAO syndrome): multiple, painless, subcutaneous nodules (interphalangeal joints, knees, feet, elbows, pretibial), mild to moderate osteoporosis[iofbonehealth.org] lips - Thick skin / pachydermia / orange skin - Thickened / hypertrophic / fibromatous gingivae Occasional - Atrial septal defect / interauricular communication - Subcutaneous[csbg.cnb.csic.es]

  • Metaphyseal Chondrodysplasia, Spahr Type

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[amazon.de] There are no life-threatening causes of osteoporosis. However, complications resulting from untreated osteoporosis are common.[wikidoc.org] 21 102100 Acromegaloid changes, cutis vertcis gyrata, and corneal leukoma (Rosenthal-Kloepfer syndrome) 22 102150 Acromegaloid facial appearance syndrome (AFA syndrome) (Thick[becomerich.lab.u-ryukyu.ac.jp]

  • Mesomelic Dysplasia Type Savarirayan

    Dyssegmental dysplasia group Dyssegmental dysplasia, Silverman-Handmaker Type AR Dyssegmental dysplasia, Rolland-Desbuquois Type AR 8.[gamuts.isradiology.org] There was increase of the osteoporosis atthe age of 15 years.[dokumen.tips] 21 102100 Acromegaloid changes, cutis vertcis gyrata, and corneal leukoma (Rosenthal-Kloepfer syndrome) 22 102150 Acromegaloid facial appearance syndrome (AFA syndrome) (Thick[becomerich.lab.u-ryukyu.ac.jp]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] Moreover, this article illustrates how the study of rare diseases can inform understanding and therapeutic developments for common diseases such as osteoporosis.[ncbi.nlm.nih.gov] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Ectodermal Dysplasia, Trichoodontoonychial[rgd.mcw.edu] […] primary B-cell expansion with NFKB and T-cell anergy Bare lymphocyte syndrome Beare-Stevenson cutis gyrata syndrome Bent bone dysplasia syndrome Bone mineral density QTL18, osteoporosis[qlinics.com] 21 102100 Acromegaloid changes, cutis vertcis gyrata, and corneal leukoma (Rosenthal-Kloepfer syndrome) 22 102150 Acromegaloid facial appearance syndrome (AFA syndrome) (Thick[becomerich.lab.u-ryukyu.ac.jp]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    , cartilage-hair dysplasia, chondrodysplasia, desbuquois dysplasia, fibular hypoplasia, Meier-Gorlin syndrome, metaphyseal dysplasia, ostogenesis imperfecta, pycnodystosis[genomeweb.com] Radiologic manifestations include diffuse osteoporosis,swollen joints,periosteal reaction around the shafts of the long bones, meta-physeal widening, and large, irregular,[rrnursingschool.biz] Blepharophimosis / short palpebral fissures - Cardiac septal defect - Chronic arterial hypertension - Epiphyseal anomaly - Hypermetropia - Metaphyseal anomaly - Ptosis - Thick[csbg.cnb.csic.es]

  • Hypertrichotic Osteochondrodysplasia

    […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[se-atlas.de] When the disease is unilateral, all the skeletal changes, including osteoporosis, bony underdevelopment, coxa valga, and patella baja, are unilateral.[rrnursingschool.biz] […] eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick vermilion border Full lips Increased volume of lip Plump lips[rarediseases.info.nih.gov]

  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] […] predominant involvement of single sites or segments spine rhizomelic peripheral osteochondrodysplasias with decreased bone density osteogenesis imperfecta (OIs) idiopathic osteoporosis[humpath.com] A severely hydropic fetus with a swollen face with a bipartite nose, thick lips, narrow thorax and micromelic limbs were noted at postmortem examination.[ncbi.nlm.nih.gov]

  • Platyspondyly

    Desbuquois dysplasia 1 MedGen UID: 860583 • Concept ID: C4012146 • Disease or Syndrome Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to[ncbi.nlm.nih.gov] The segregation of flanking marker alleles of three collagen genes and the interval for osteoporosis-pseudoglioma syndrome were analyzed.[push-zb.helmholtz-muenchen.de] lips with a small mouth.[mendelian.co]

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