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230 Possible Causes for Desbuquois Dysplasia, Short Neck, 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] […] 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] The female patient had a short neck, narrow thorax, and generalized hypertrichosis.[genome.jp]

  • 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] The condition may cause cleft palate, short neck, short stature, unusual shape of iliac bones and other bone abnormalities.[xpertdox.com]

  • Spondyloepiphyseal Dysplasia Type Cantú

    DYSPLASIA Desbuquois syndrome Diastrophic dysplasia ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB ISOLATED GROWTH HORMONE DEFICIENCY[sites.google.com] lip Prominent lower lip [ more ] 0000179 Thick upper lip vermilion Full upper lip Increased volume of upper lip Plump upper lip Prominent upper lip Thick upper lip [ more[rarediseases.info.nih.gov] Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal[malacards.org]

  • 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] Her anomalies consisted of disproportionately short stature, short neck, broad and depressed nasal bridge, broad chest in the anteroposterior dimension, kyphosis, widely spaced[ncbi.nlm.nih.gov]

  • 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] They had short neck, severe lumbar lordosis, and marked genu varum due to fibular overgrowth and joint laxity.[cags.org.ae] […] 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]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    , cartilage-hair dysplasia, chondrodysplasia, desbuquois dysplasia, fibular hypoplasia, Meier-Gorlin syndrome, metaphyseal dysplasia, ostogenesis imperfecta, pycnodystosis[genomeweb.com] […] stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral[malacards.org] Blepharophimosis / short palpebral fissures - Cardiac septal defect - Chronic arterial hypertension - Epiphyseal anomaly - Hypermetropia - Metaphyseal anomaly - Ptosis - Thick[csbg.cnb.csic.es]

  • Brachyolmia Type Hobaek

    […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com] […] metaphyses of the elbow ; Scoliosis ; Short femoral neck ; Short iliac bones ; Short long bone ; Short neck ; Squared-off platyspondyly Associated Genes - Mouse Orthologs[mousephenotype.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]

  • Dyggve-Melchior-Clausen Syndrome

    Dyssegmental dysplasia group 7.分節異常骨異形成症 Dyssegmental dysplasia (Silverman-Handmaker type) 分節異常骨異形成症(Silverman-Handmaker型) Dyssegmentaldysplasia (Rolland-Desbuquois type)[normanet.ne.jp] In addition, characteristic facial changes include a narrow forehead, thick lips, macrognathia, prominent ears, and macrostomia.[symptoma.com] […] femoral neck Short neck of thighbone 0100864 Short metacarpal Shortened long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Spondyloepimetaphyseal[rarediseases.info.nih.gov]

  • Goldberg-Shprintzen Syndrome

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[centogene.com] […] earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral[orpha.net] […] bridge, thick philtrum, everted lower lip, and pointed chin.[omim.org]

  • Cerebro-Facio-Thoracic Dysplasia

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[centogene.com] He also showed dysmorphic features:hypertelorism, broad short nose, synophrys, narrowforehead, large low-set ears, flat facies, short neck withlow hair line, flat occiput,[docslide.com.br] The mouth uas triangular, with a broad philtruni and thick lips. The superior maxillae were hypoplastic and the cars were low-set (Fig. 8).[vdocuments.site]

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