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173 Possible Causes for Contractures of the Fingers, Desbuquois Dysplasia, Thick Lips

  • 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] […] arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital[se-atlas.de] […] 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]

  • 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] […] osteoarthritis of the knees, hips, and finger joints; swelling of the inter-phalangeal joints; and absence of short stature, which is a point of difference from other forms[rrnursingschool.biz] […] 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]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    , cartilage-hair dysplasia, chondrodysplasia, desbuquois dysplasia, fibular hypoplasia, Meier-Gorlin syndrome, metaphyseal dysplasia, ostogenesis imperfecta, pycnodystosis[genomeweb.com] […] and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long[orpha.net] Blepharophimosis / short palpebral fissures - Cardiac septal defect - Chronic arterial hypertension - Epiphyseal anomaly - Hypermetropia - Metaphyseal anomaly - Ptosis - Thick[csbg.cnb.csic.es]

  • Winchester Syndrome

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] Reorder Groups Close Signs / Symptoms (17) Feet Pes cavus Show images Joints and Tendons Joint contractures Limbs Abnormality Widened metacarpal shaft Metabolic Abnormality[datagenno.com] lips - Thick skin / pachydermia / orange skin - Thickened / hypertrophic / fibromatous gingivae Occasional - Atrial septal defect / interauricular communication - Subcutaneous[csbg.cnb.csic.es]

  • Metaphyseal Chondrodysplasia, Spahr Type

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[amazon.de] […] of fingers is a feature Pes cavus and scoliosis (30%), also kyphosis, genu valgum and dislocation of the lens (but downwards and inwards) Investigation Cyanide-nitroprusside[flinders.edu.au] 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]

  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] ; Finger laxity; Hand contracture (rare); Advanced carpal ossification; Carpal fusion (rare); Metacarpal shortening; [Feet]; Clubfeet SKIN, NAILS, HAIR: [Skin]; Doughy skin[findzebra.com] 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]

  • 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] Note severe joint space narrowing at the metacarpophalangeal and proximal inter-phalangeal joints of fingers 4 and 5, resulting in finger contracture.[rrnursingschool.biz] lips, micrognathia), failure to thrive, mental retardation, sparse hair, enamel hypoplasia, loose skin, and skeletal abnormalities.[accessanesthesiology.mhmedical.com]

  • Mesomelic Dysplasia Type Savarirayan

    Dyssegmental dysplasia group Dyssegmental dysplasia, Silverman-Handmaker Type AR Dyssegmental dysplasia, Rolland-Desbuquois Type AR 8.[gamuts.isradiology.org] […] arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital[se-atlas.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]

  • 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] , blue sclerae, low implanted ears, long philtrum. (2) severe kyphoscoliosis; (3) feet with some fingers contractures; (4) hypotonia and hyperextensible skin the type V, X-linked[sites.uclouvain.be] 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]

  • 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] […] philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease of fifth finger[malacards.org] 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]

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