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1,428 Possible Causes for Desbuquois Dysplasia, Hypoplastic Ischiopubic Rami, Thick Lips

  • 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] ischiopubic rami 0008822 Large for gestational age Birth weight 90th percentile Birthweight 90th percentile [ more ] 0001520 Large sella turcica Big sella turcica 0002690[rarediseases.info.nih.gov] ischiopubic rami Congenital hypertrophy of left ventricle Broad first metatarsal Cuboid-shaped vertebral bodies Erlenmeyer flask deformity of the femurs Bilateral coxa valga[mendelian.co]

  • Immunodeficiency Type 23

    […] resembling Desbuquois dysplasia.[scilit.net] Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.[f1000.com] Keywords: Bone marrow failure / Congenital Disorder of Glycosylation / Pgm3 / Severe combined immunodeficiency / whole‐exome sequencing / DESBUQUOIS‐LIKE DYSPLASIA Click here[scilit.net]

    Missing: Hypoplastic Ischiopubic Rami
  • 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: Hypoplastic Ischiopubic Rami
  • 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: Hypoplastic Ischiopubic Rami
  • 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] ischiopubic rami Congenital hypertrophy of left ventricle Acne Macroorchidism Cuboid-shaped vertebral bodies Angiofibromas Hyperlordosis Dyspnea Muscular hypotonia of the[mendelian.co] lips with a small mouth.[mendelian.co]

  • 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: Hypoplastic Ischiopubic Rami
  • Nivelon-Nivelon-Mabille Syndrome

    […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[se-atlas.de] ischiopubic rami Congenital hypertrophy of left ventricle Broad first metatarsal Cuboid-shaped vertebral bodies Erlenmeyer flask deformity of the femurs Bilateral coxa valga[mendelian.co] […] limb anomaly as a major feature Dysostosis with predominant craniofacial involvement Dysostosis with predominant vertebral and costal involvement Dysostosis, Stanescu type Dysplasia[se-atlas.de]

  • 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: Hypoplastic Ischiopubic Rami
  • 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: Hypoplastic Ischiopubic Rami
  • Metaphyseal Chondrodysplasia, Spahr Type

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[amazon.de] 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: Hypoplastic Ischiopubic Rami

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