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232 Possible Causes for Desbuquois Dysplasia, Pediatric Disorder, Thick Lips

  • Immunodeficiency Type 23

    […] resembling Desbuquois dysplasia.[scilit.net] Indian J Pediatr 77:695–696 PubMed CrossRef Verstegen RH, Theodore M, van de Klerk H, Morava E (2012) Lymphatic edema in congenital disorders of glycosylation.[springermedizin.de] Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.[f1000.com]

  • Winchester Syndrome

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] Definition / general Rare hereditary pediatric disorder with extracellular hyaline material deposition in skin, soft tissue and bone Terminology Molluscum fibrosum in children[pathologyoutlines.com] lips - Thick skin / pachydermia / orange skin - Thickened / hypertrophic / fibromatous gingivae Occasional - Atrial septal defect / interauricular communication - Subcutaneous[csbg.cnb.csic.es]

  • Hypertrophic Interstitial Neuropathy

    […] lip/palate-limb reduction defects syndrome Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker type Dysspondyloenchondromatosis Dystonia[orpha.net] […] shows evidence of denervation Symptoms begin in first year of life Recessive transmission Hypotonia Muscular atrophy Weakness Ataxia Sensory disturbances Facial weakness and thick-lipped[quizlet.com] dysplasia Desbuquois syndrome DESC syndrome DES embryofetopathy Desert fever Desert rheumatism De Smet-Fabry-Fryns syndrome Desminopathy Desmin-related myofibrillar myopathy[orpha.net]

  • Simpson Dysmorphia Syndrome

    Rolland-Desbuquois type Isolated growth hormone deficiency type 3 Occipital horn syndrome Chromosome 10p deletion Osteogenesis imperfecta type VI Brachydactyly preaxial with[checkrare.com] Turk J Pediatr 2010;52: 525-528.[turkishjournalpediatrics.org] Lips Grooved Lower Lip Cleft Or Highly Arched Palate Malposition Of The Teeth Abdomen Umbilical Diaphragmatic Or Inguinal Hernia And Occasional Visceroptosis Hand And Foot[neo-genetics.com]

  • 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] These finding thus rule out the X-linked mode of inheritance of the disorder proposed by Camera et al. [1994: Pediatr Radiol 24: 322-324].[ncbi.nlm.nih.gov] […] 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]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] Chiropractors are not adequately trained in pediatric disorders to make a correct diagnosis or to recommend appropriate treatment.[chirobase.org] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com]

  • 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] Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[books.google.com] In addition, characteristic facial changes include a narrow forehead, thick lips, macrognathia, prominent ears, and macrostomia.[symptoma.com]

  • Familial Short Stature

    […] type; dyssegmental dysplasia, Rolland‐Desbuquois type; and Schwartz‐Jampel syndrome [ 11 ]. 2.1.2.7.1.[intechopen.com] Explore the impact of today’s advances and challenges, including explosive growth in molecular biology, sophisticated imaging techniques, and an increase in both pediatric[books.google.com] Lifshitz F, Zandsberg S (1985) Disorders of growth. In: Lifshitz F (ed) Pediatric endocrinology. Marcel Dekker, New York p 14 Google Scholar 14.[link.springer.com]

  • Schwartz-Lelek Syndrome

    PANELES: ACP5 Spondyloenchondrodysplasia with immune dysregulation B3GALT6 Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity CANT1 Desbuquois dysplasia[genda.com.ar] Craniotubular bone disorders. Pediatric Radiology , Vol. 24, Issue. 6, p. 392.[cambridge.org] […] lower lip vermilion Abnormal form of the vertebral bodies Aminoaciduria Decreased nerve conduction velocity Short thorax Slurred speech Dysostosis multiplex Vascular skin[mendelian.co]

  • Cerebro-Costo-Mandibular Syndrome

    […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com] A new familial developmental disorder. Arch Dis Chil 45: 421 Google Scholar 4.[link.springer.com] […] lower lip).[findzebra.com]

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