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362 Possible Causes for Brachydactyly of the Foot, Desbuquois Dysplasia

  • Metaphyseal Acroscyphodysplasia

    , Autosomal Dominant Cystinosis, Nephropathic Desbuquois Dysplasia 1 Desbuquois Dysplasia 2 Dyssegmental Dysplasia, Rolland-Desbuquois Type Fibrochondrogenesis 2 Fibrodysplasia[familydiagnosis.com] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[amazon.it]

  • Diastrophic Dysplasia

    The new complement of features in this patient fell in a range between Desbuquois dysplasia and diastrophic dysplasia.[ncbi.nlm.nih.gov] Other fingers may also be abnormally short (brachydactyly) and joints between certain bones of the fingers (proximal interphalangeal joints) may become fused (symphalangism[peachynay.tripod.com] Our results further extend the phenotypic spectrum of DTDST mutations, adding Desbuquois dysplasia to the list of differential diagnosis of the DTD group.[ncbi.nlm.nih.gov]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    , cartilage-hair dysplasia, chondrodysplasia, desbuquois dysplasia, fibular hypoplasia, Meier-Gorlin syndrome, metaphyseal dysplasia, ostogenesis imperfecta, pycnodystosis[genomeweb.com] , and distinct face Brachydactyly-hypertension syndrome Microcephaly-oculo-digito-esophageal-duodenal syndrome Hand-foot-genital syndrome Rubinstein-Taybi syndrome Brachydactyly[emedicine.medscape.com] A/B/D/E Brachydactyly C Brachydactyly-syndactyly syndrome Feingold syndrome Hand-foot-genital syndrome Keutel syndrome Brachydacytly-mental retardation syndrome Rubinstein-Taybi[csirnotes.com]

  • Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

    Dandy-Walker malformation and occipital cephaloceles, LAMC1 related De Sanctis-Cacchione syndrome Desbuquois dysplasia Desmosterolosis Diamond Blackfan anemia with mandibulofacial[qlinics.com] Some causes may include: 1 Causes of Short Hallux : Acro-Renal-Ocular Syndrome Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction Brachydactyly Type A1 Brachydactyly[familydiagnosis.com] […] syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting HSPG2 Dyssegmental[genda.com.ar]

  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] There may be metaphyseal irregularities, narrow chest, flat midface, dwarfism , sacral stenosis, hook shaped clavicles, and brachydactyly .[xpertdox.com] , and distinct face Brachydactyly-hypertension syndrome Microcephaly-oculo-digito-esophageal-duodenal syndrome Hand-foot-genital syndrome Rubinstein-Taybi syndrome Brachydactyly[emedicine.medscape.com]

  • Dappled Diaphyseal Dysplasia

    Dyssegmental dysplasia group Dyssegmental dysplasia, Silverman-Handmaker Type AR Dyssegmental dysplasia, Rolland-Desbuquois Type AR 8.[gamuts.isradiology.org] Severe short stature Flat face Short palm Respiratory insufficiency Depressed nasal bridge Respiratory distress Hypoplastic scapulae Platyspondyly Edema Short stature Short foot[mendelian.co] Dyssegmental dysplasia groupDyssegmental dysplasiaSilverman-Handmaker typeAR Dyssegmental dysplasiaRolland-Desbuquois typeAR 8.[dokumen.tips]

  • Osteoglophonic Dwarfism

    […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com] […] syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting HSPG2 Dyssegmental[genda.com.ar] 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]

  • Metaphyseal Chondrodysplasia, Spahr Type

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[amazon.de] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[amazon.it]

  • Familial Digital Arthropathy - Brachydactyly

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[bookdepository.com] foot malformation 1 and windblown hand.[malacards.org] […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[se-atlas.de]

  • 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] […] syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting HSPG2 Dyssegmental[genda.com.ar] […] with joint laxity, Ehlers-Danlos syndrome AR 17 26 BGN Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome XL 8 7 CANT1 Desbuquois dysplasia AR 20 28 CHST3[blueprintgenetics.com]

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