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88 Possible Causes for Congenital Ear Deformity, Ectopia Lentis, Ulnar Hypoplasia

  • CHARGE Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] lentis) 759.89 Menkes' 759.89 Meyer-Schwickerath and Weyers (dysplasia oculodentodigitalis) 759.89 microphthalmos (congenital) 759.89 Mieten's 759.89 Mohr's (types I and[icd9data.com] lentis 759.89 Bruck-de Lange disease or syndrome (Amsterdam dwarf, intellectual disabilities, and brachycephaly) 759.89 Carpenter's syndrome 759.89 Cerebrohepatorenal syndrome[icd9data.com]

  • Congenital Contractural Arachnodactyly

    We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation.[ncbi.nlm.nih.gov] […] contractural deformities of the knees and elbows.[ncbi.nlm.nih.gov] These individuals usually have crumpled ears, camptodactyly with ulnar deviation of the fingers, adducted thumbs, limited elbow and/or knee extension, and hypoplasia of the[ncbi.nlm.nih.gov]

  • Goldberg-Shprintzen Syndrome

    […] age 20 years or older [1] Ectopia lentis syndrome Autosomal dominant Ectopia lentis Variable skeletal manifestations reminiscent of the Marfan syndrome Heterozygous mutations[medicinman.cz] […] and often a deformity of the auricles ("crumpled ears").[aerzteblatt.de] […] superior pectus carinatum/inferior pectus excavatum, scoliosis, genu valgus, recurrent non-traumatic patellar dislocation, mild contractures of the hip, elbows and knees, ulnar[ojrd.biomedcentral.com]

  • Thickened Earlobes-Conductive Deafness Syndrome

    lentis isolated Ectopia pupillae Ectopic coarctation Ectopic ossification familial type Ectopic pregnancy Ectrodactyly cardiopathy dysmorphism Ectrodactyly cleft palate syndrome[bioreference.net] Deformities Absence of the outer ear Congenital deformity or absence of the outer ear, usually on one side, sometimes on both, is often accompanied by absence of the outer-ear[britannica.com] […] disability syndrome 2 Cases 1122 Ulnar hypoplasia-split foot syndrome 1 Family 3138 Ulnar-mammary syndrome 117 Cases 52056 Ulnar/fibula ray defect- brachydactyly syndrome[azkurs.org]

  • Acrootoocular Syndrome

    Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.org] Microtia - Congenital Ear Institute evaluates and operates hundreds of children born with a congenital ear deformity known as microtia/atresia ...[ibis-birthdefects.org] Hofkens Fabry Syndrome Fryns Syndrome Fuchs' heterochromic uveitis Fuhrmann syndrome Fumaric Aciduria Furukawa Takagi Nakao Syndrome GABRIELE-DE VRIES SYNDROME Galloway-Mowat[rgd.mcw.edu]

  • Spondylo-Ocular Syndrome

    In most inherited forms of ectopia lentis, findings are limited to the eye.[ommbid.mhmedical.com] […] disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot syndrome Ulnar-mammary syndrome Ulnar/fibula ray defect-brachydactyly[se-atlas.de] Ectopia lentis is absent.[rheumatologyadvisor.com]

  • Peters Anomaly

    Megalocornea has been reported in association with congenital miosis,11 ectopia lentis, ectopia pupillae, and mental retardation.12 Megalophthalmos is an enlarged cornea in[slideshare.net] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q13- Congenital[icd10data.com] One patient had fetal alcohol syndrome; one, Pfeiffer's syndrome; and one, short stature, ulnar hypoplasia, and joint laxity.[ncbi.nlm.nih.gov]

  • Rieger Syndrome

    By Genes Gene (MIM#) Chromosome Location Disease CYP1B1 (601771) 2p21 Primary congenital glaucoma FBN1 / fibrillin (134797) 15q21 Ectopia Lentis (simple) FKHL7 (601090) 6p25[glaucoma.net] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q13- Congenital[icd10data.com] Dua's layer occured at follow-up) Click here to view Figure 2: Radiological findings (a) Dextrocardia; (b) Aplasia of nasal bone, upper alveolar process of maxilla; (c) Ulnar[jomfp.in]

  • Genee-Wiedemann Syndrome

    lentis, familial; 129600; FBN1 Ectopia lentis, isolated, autosomal recessive; 225100; ADAMTSL4 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; 604292[howlingpixel.com] Substance CAS Registry & name Categories Source Powell Chandra Saal syndrome 0 *Abnormalities, Multiple *Heart Defects, Congenital *Pterygium *Limb Deformities, Congenital[reference.md] , small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.[orpha.net]

  • Otoonychoperoneal Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] ear Congenital anomaly of right ear Congenital deformity of pinna Congenital malformation of ear Congenital malformation of eye, ear and neck Ear, face and neck congenital[icdlist.com] hypoplasia and mental arterial type Ehlers Danlos retardation syndrome K.B.G. syndrome PH1 Tongue neoplasm Ulna hypoplasia with mental Ehlers Danlos syndrome Peroxisomal[yumpu.com]

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