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1,524 Possible Causes for Desbuquois Dysplasia, IgE IgA IgG Increased, Thick Lips

  • Immunodeficiency Type 23

    […] resembling Desbuquois dysplasia.[scilit.net] […] of serum IgE, IgG, and IgA.[en.wikipedia.org] Patients had significantly increased levels of serum IgE, IgG, and IgA (Table II) and protective antibodies to protein and polysaccharide antigens.[mafiadoc.com]

  • 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] […] 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] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com]

    Missing: IgE IgA IgG Increased
  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[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] Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists, spatulate fingers, fifth finger camptodactyly[ncbi.nlm.nih.gov]

    Missing: IgE IgA IgG Increased
  • 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] […] 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] […] nares, long and large philtrum, prominent mouth with full lips and macroglossia.[orpha.net]

    Missing: IgE IgA IgG Increased
  • Kanzaki Disease

    Dentinogenesis imperfecta, Shields type II ( DSPP) Dentinogenesis imperfecta, Shields type III ( DSPP) Denys-Drash syndrome ( WT1) Dermatopathia pigmentosa reticularis ( KRT14) Desbuquois[de.praenatal-medizin.de] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 Tinnitus Ringing in ears Ringing in the ears [ more ] 0000360 Percent[rarediseases.info.nih.gov] […] type - See Dyssegmental dysplasia Rolland-Desbuquois type Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type - See Dyssegmental dysplasia Silverman-Handmaker[rarediseases.info.nih.gov]

    Missing: IgE IgA IgG Increased
  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    , cartilage-hair dysplasia, chondrodysplasia, desbuquois dysplasia, fibular hypoplasia, Meier-Gorlin syndrome, metaphyseal dysplasia, ostogenesis imperfecta, pycnodystosis[genomeweb.com] Blepharophimosis / short palpebral fissures - Cardiac septal defect - Chronic arterial hypertension - Epiphyseal anomaly - Hypermetropia - Metaphyseal anomaly - Ptosis - Thick[csbg.cnb.csic.es] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com]

    Missing: IgE IgA IgG Increased
  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] 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] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com]

    Missing: IgE IgA IgG Increased
  • Metaphyseal Chondrodysplasia, Spahr Type

    Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[amazon.it] 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] lips and open mouth Flexion contracture of joints not uncommon Clouding of the cornea X-Rays Similar features to Morquios Marked localised kyphosis between age of 1 & 2 Gibbus[flinders.edu.au]

    Missing: IgE IgA IgG Increased
  • Mesomelic Dysplasia Type Savarirayan

    Dyssegmental dysplasia group Dyssegmental dysplasia, Silverman-Handmaker Type AR Dyssegmental dysplasia, Rolland-Desbuquois Type AR 8.[gamuts.isradiology.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] Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[bookdepository.com]

    Missing: IgE IgA IgG Increased
  • Lenz-Majewski Syndrome

    dysplasia 2 Sequencing of all coding exons of the gene - - 2.9 ZC4H2 Wieacker-Wolf syndrome Sequencing of all coding exons of the gene - - 0.7 ZEB2 Mowat Wilson Syndrome[cegat.de] lips, micrognathia), failure to thrive, mental retardation, sparse hair, enamel hypoplasia, loose skin, and skeletal abnormalities.[accessanesthesiology.mhmedical.com] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 Wide mouth Broad mouth Large mouth [ more ] 0000154 5%-29% of people[rarediseases.info.nih.gov]

    Missing: IgE IgA IgG Increased

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