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1,429 Possible Causes for Desbuquois Dysplasia, Mutation in the Alpha-N-Acetylgalactosaminidase Gene, Thick Lips

  • Kanzaki Disease

    Dentinogenesis imperfecta, Shields type II ( DSPP) Dentinogenesis imperfecta, Shields type III ( DSPP) Denys-Drash syndrome ( WT1) Dermatopathia pigmentosa reticularis ( KRT14) Desbuquois[de.praenatal-medizin.de] Etiology All individuals with NAGA deficiency have mutations in the alpha-N-acetylgalactosaminidase gene ( NAGA ; 22q13.2) but not all develop neurological symptoms.[orpha.net] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 Tinnitus Ringing in ears Ringing in the ears [ more ] 0000360 Percent[rarediseases.info.nih.gov]

  • 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] Keywords: Bone marrow failure / Congenital Disorder of Glycosylation / Pgm3 / Severe combined immunodeficiency / whole‐exome sequencing / DESBUQUOIS‐LIKE DYSPLASIA Click here[scilit.net]

    Missing: Mutation in the Alpha-N-Acetylgalactosaminidase Gene
  • 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]

    Missing: Mutation in the Alpha-N-Acetylgalactosaminidase Gene
  • 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] 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: Mutation in the Alpha-N-Acetylgalactosaminidase Gene
  • Fucosidosis

    - and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. ( 10571005 ) 1999 50 A fucosidosis patient with relative longevity and a missense mutation[malacards.org] […] eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick lower lip vermilion Increased volume of lower lip Plump lower[rarediseases.info.nih.gov] […] in exon 7 of the alpha-fucosidase gene. ( 9762612 ) Fleming C.J....Connor J.M. 1998[malacards.org]

    Missing: Desbuquois Dysplasia
  • 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] […] nares, long and large philtrum, prominent mouth with full lips and macroglossia.[orpha.net]

    Missing: Mutation in the Alpha-N-Acetylgalactosaminidase Gene
  • Schindler Disease

    Etiology All individuals with NAGA deficiency have mutations in the alpha-N-acetylgalactosaminidase gene ( NAGA ; 22q13.2) but not all develop neurological symptoms.[orpha.net] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 Tinnitus Ringing in ears Ringing in the ears [ more ] 0000360 Percent[rarediseases.info.nih.gov] Mutations in the NAGA gene cause Schindler disease. The NAGA gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase.[ghr.nlm.nih.gov]

    Missing: Desbuquois Dysplasia
  • 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] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com]

    Missing: Mutation in the Alpha-N-Acetylgalactosaminidase Gene
  • 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] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com]

    Missing: Mutation in the Alpha-N-Acetylgalactosaminidase Gene
  • Metaphyseal Chondrodysplasia, Spahr Type

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[amazon.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] lips and open mouth Flexion contracture of joints not uncommon Clouding of the cornea X-Rays Similar features to Morquios Marked localised kyphosis between age of 1 & 2 Gibbus[flinders.edu.au]

    Missing: Mutation in the Alpha-N-Acetylgalactosaminidase Gene

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