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16 Possible Causes for Desbuquois Dysplasia, Nasolacrimal Duct Stenosis, Thick Lips

  • 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] The ears are large and floppy, and frequently there is choanal atresia or stenosis, nasolacrimal duct obstruction, and, in boys, cryptorchidism and inguinal hernia.[doi.org] lips, micrognathia), failure to thrive, mental retardation, sparse hair, enamel hypoplasia, loose skin, and skeletal abnormalities.[accessanesthesiology.mhmedical.com]

  • Craniorhiny

    Craniomicromelic Syndrome Craniorhiny craniosynostosis Crouzon syndrome Curly Hair-Acral Keratoderma-Caries Syndrome Desanto-Shinawi Syndrome Desbuquois dysplasia Diaphanospondylodysostosis[rgd.mcw.edu] Duct Cyst 16 55 c ART054 Arthrogryposis, Distal, Type 2e 16 56 CRN192 Craniorhiny 15 57 NSL021 Nasal Encephalocele 11 58 ISL022 Isolated Congenital Nasal Pyriform Aperture[malacards.org] […] lower lip vermilion Sloping forehead Osteoporosis Verrucae Asthma Short thumb Cutis laxa Joint hyperflexibility Growth abnormality Aortic aneurysm Motor delay Pulmonic stenosis[mendelian.co]

  • Coats Plus Syndrome

    USB1) Poikiloderma with neutropenia (PN) (Poikiloderma with neutropenia, Clericuzio-type) CANT1 del Desbuquois dysplasia (DBQD) CAV1 Lipodystrophy, congenital generalized,[uniklinik-freiburg.de] ; osteoporosis; and avascular necrosis of the hips and shoulders. 3 Ophthalmic manifestations of DC include blepharitis, conjunctivitis, nasolacrimal duct obstruction, ectropion[dovepress.com] […] lower lip, large tongue, an inflammatory skin disorder, smooth hair, obesity, small genitalia, short fingers, congenital heart anomalies and intellectual disabilities.[tsbvi.edu]

  • Schwartz-Lelek Syndrome

    PANELES: ACP5 Spondyloenchondrodysplasia with immune dysregulation B3GALT6 Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity CANT1 Desbuquois dysplasia[genda.com.ar] Broad alveolar ridges Abnormality of the nasopharynx Midface retrusion Nasolacrimal duct obstruction Osteopenia Pes planus Gastroesophageal reflux Thin upper lip vermilion[mendelian.co] duct obstruction Broad alveolar ridges Calvarial osteosclerosis Delayed eruption of permanent teeth Facial hyperostosis Hyperreflexia Anteverted nares Short neck Scapular[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] These abnormalities include microphthalmia, anophthalmia, coloboma, strabismus, ptosis, nasolacrimal duct stenosis or atresia, and cataracts. [9] The characteristic facial[advbiores.net] […] lower lip).[findzebra.com]

  • Cenani Syndactylism

    PANELES: ACP5 Spondyloenchondrodysplasia with immune dysregulation B3GALT6 Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity CANT1 Desbuquois dysplasia[genda.com.ar] duct obstruction Broad columella Long hallux Urethral stenosis Toe clinodactyly Central hypothyroidism Clitoral hypoplasia U-Shaped upper lip vermilion Abnormality of the[mendelian.co] Dysplasia 1 Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification DBQD1 DBQD1 251450 Genetic Test Registry Desmosterolosis[ukgtn.nhs.uk]

  • Limb-Mammary Syndrome

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[centogene.com] duct [NLD] obstruction, lower lid punctal stenosis, photophobia, corneal ulcerations, keratitis, blepharitis, and entropion), gland abnormalities (i.e. hypoplastic thymus[ijo.in] Figure 3: (a) Frontal view showingsunken cheeks, hypertelorism, scanty eye brows, and thick and everted lips.[jisppd.com]

  • Schimke Immunoosseous Dysplasia

    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] duct obstruction Thyroid adenoma Aqueductal stenosis Renal artery stenosis Epigastric pain Parathyroid adenoma Acute promyelocytic leukemia Abnormal platelet morphology Abnormality[mendelian.co] Physical examination: relative macrocephaly; dysmorphic face that became more triangular in time (tall/ broad forehead, hypertelorism, short/ prominent phyltrum, thick lips[healthdocbox.com]

  • Odonto Tricho Ungual Digito Palmar Syndrome

    , Rolland-Desbuquois Type Dystelephalangy Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL[rgd.mcw.edu] duct obstruction Toenail dysplasia Lacrimal duct stenosis Fingernail dysplasia Absent nipple Nail pits Lacrimal duct atresia Adermatoglyphia Premature loss of permanent teeth[mendelian.co] , coarse lips[malacards.org]

  • Skeletal Dysplasia - Intellectual Disability Syndrome

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[centogene.com] Other problems described include glaucoma, nasolacrimal duct stenosis, microcornea, optic atrophy and coloboma of optic nerve.[patient.info] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com]

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