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320 Possible Causes for Desbuquois Dysplasia, Short, Broad First Toe, Thick Lips

  • 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] , a hemicylindrical nose, broad thumbs and first toes.[kegg.jp] Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is an autosomal recessive skeletal dysplasia, characterized by disproportionate short stature with a short and stiff neck[ncbi.nlm.nih.gov]

  • 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] […] thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.[amp.pharm.mssm.edu] @article{Varkey2004PerinatallyLS, title {Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia.}, author {Jastin Varkey and Robert[semanticscholar.org]

  • 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] first toe; Broad first metatarsal SKIN, NAILS, HAIR: [Skin]; Lymphedema; [Hair]; Congenital, generalized hypertrichosis; Long, curly eyelashes MUSCLE, SOFT TISSUE: Lymphedema[genome.jp] Diseases related with Cardiomyopathy and Short phalanx of finger In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Short[mendelian.co]

  • 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] 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] Thumb And Toes Ankylosis Of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, And Syndactyly Stapes Ankylosis Syndrome Without Symphalangism Teunissen-Cremers Syndrome 184460[ukgtn.nhs.uk] Symptoms via clinical synopsis from OMIM: 57 Skin Nails Hair Hair: hypotrichosis Skeletal Pelvis: coxa vara flared iliac wings short femoral neck limited hip abduction Head[malacards.org]

  • 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] […] ribs, abnormally short and wide bones of the lower legs (fibulae), and malformation of the long bones.[rarediseases.org] Keywords: Bone marrow failure / Congenital Disorder of Glycosylation / Pgm3 / Severe combined immunodeficiency / whole‐exome sequencing / DESBUQUOIS‐LIKE DYSPLASIA Click here[scilit.net]

    Missing: Broad First Toe
  • 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] KEYWORDS: SPONASTRIME dysplasia; short dental roots; hypogammaglobulinemia; cataracts; JOURNAL: American Journal of Medical Genetics Part A SOURCE: Wiley journal DOI: 10.1002[kns.cnki.net] Pages 20-7 Volume 63 Number 1 Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-limb bone dysplasia.[togetherforshortlives.org.uk]

    Missing: Broad First Toe
  • 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] We report a male infant with a lethal short limb Skeletal Dysplasia, born in a District Hospital in the South of Portugal.[ncbi.nlm.nih.gov] 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: Broad First Toe
  • Dyssegmental Dysplasia-Glaucoma Syndrome

    Huber et al. (2009) reported an Emirati boy, born to consanguineous parents, with Desbuquois Dysplasia type 1.[cags.org.ae] 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] Thumb And Toes Ankylosis Of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, And Syndactyly Stapes Ankylosis Syndrome Without Symphalangism Teunissen-Cremers Syndrome 184460[ukgtn.nhs.uk] Limb Dwarfism Al Gazali Type Short Stature and Facioauriculothoracic Malformations SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES SHORT STATURE WITH NONSPECIFIC SKELETAL[rgd.mcw.edu]

  • 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] S., at 18 years of age, also showed short, broad thumbs and first toes. Her menstrual periods commenced at 12 years and were regular. Y.[healthdocbox.com] The parents and sibling of the second patient were heterozygous carriers with mild skeletal changes and short stature.[ncbi.nlm.nih.gov]

  • Pelviscapular Dysplasia

    USB1) Poikiloderma with neutropenia (PN) (Poikiloderma with neutropenia, Clericuzio-type) CANT1 del Desbuquois dysplasia (DBQD) CAV1 Lipodystrophy, congenital generalized,[uniklinik-freiburg.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] , a hemicylindrical nose, broad thumbs and first toes.[kegg.jp] A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features.[nectarmutation.org]

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