Create issue ticket

52 Possible Causes for Desbuquois Dysplasia, Micromelic Dwarfism, 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] […] 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]

  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] , micromelic Intrauterine development Polyhydramnios Stillborn or lethal in the neonatal period Limbs Abnormality Brachydactyly Show images Precociously ossified carpal bones[datagenno.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]

  • 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] Identification of CANT1 mutations in Desbuquois dysplasia. American Journal of Human Genetics, 85 (5), 706-710. Jenkins, Z.[otago.ac.nz]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] The constant features of the condition include acromelic-micromelic dwarfism, ectodermal dysplasia involving the nails, teeth and gums, postaxial polydactyly of the hands[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]

  • Dyssegmental Dysplasia Type Silverman-Handmaker

    dysplasia- Rolland-Desbuquois type Not supplied.[checkorphan.org] We report a novel case of DDSH in a fetus that presented at 15 weeks gestation with encephalocele, severe micromelic dwarfism and narrow thorax.[ncbi.nlm.nih.gov] lips, microdontia, multiple diastema, dental malocclusion and micrognathia.[intechopen.com]

  • 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] Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification DBQD1 DBQD1 251450 Genetic Test Registry Desmosterolosis 602398 Genetic Test Registry[ukgtn.nhs.uk]

  • Rhizomelic Chondrodysplasia Punctata Type 3

    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] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] 骨異形成を伴った多発性脱臼症 Larsen syndrome ラルセン症候群 Larsen-1ike syndromes(including Reunion Island) ラルセン様症候群(ラレユニオン島症候群を含む) Desbuquois dysplasia デビュクオア骨異形成症 Pseudodiastrophic dysplasia[normanet.ne.jp]

  • Metaphyseal Chondrodysplasia, Spahr Type

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[amazon.de] dwarfism Fryns type Micromelic dysplasia dislocation of radius Microphtalmos bilateral colobomatous orbital cyst Microphthalmia camptodactyly mental retardation Microphthalmia[thefullwiki.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]

  • Acromesomelic Chondrodysplasia with Genital Anomalies

    Dandy-Walker malformation and occipital cephaloceles, LAMC1 related De Sanctis-Cacchione syndrome Desbuquois dysplasia Desmosterolosis Diamond Blackfan anemia with mandibulofacial[qlinics.com] Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification DBQD1 DBQD1 251450 Genetic Test Registry Desmosterolosis 602398 Genetic Test Registry[ukgtn.nhs.uk] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    Rolland-Desbuquois type Isolated growth hormone deficiency type 3 Occipital horn syndrome Chromosome 10p deletion Osteogenesis imperfecta type VI Brachydactyly preaxial with[checkrare.com] dwarfism Fryns type Micromelic dysplasia dislocation of radius Microphtalmos bilateral colobomatous orbital cyst Microphthalmia Microphthalmia, Lentz type Microphthalmia[en.wikipedia.org] […] lower lip vermilion Prominent nose Generalized amyotrophy Increased variability in muscle fiber diameter Behavioral abnormality Aspiration Asthenia Bulbar signs Weak cry[mendelian.co]

Similar symptoms