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110 Possible Causes for Broad Nasal Bridge, Congenital Ear Deformity, Ectopia Lentis

  • Smith-Magenis Syndrome

    Ocular findings in our patient include: myopia, iris nodules, loose zonules, and ectopia lentis.[ncbi.nlm.nih.gov] The common clinical findings were: speech delay with behavioural problems associated with broad flat midface, brachycephaly, broad nasal bridge and brachydactyly.[ncbi.nlm.nih.gov] The main clinical features consist of a broad flat midface with brachycefaly, broad nasal bridge, brachydactily, speech delay, hoarse deep voice and peripheral neuropathy.[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] She had microcephaly, hypertelorism, broad nasal bridge, high-arched palate, thick eyebrows, and an IQ of 25. CT showed frontal and temporal lobe atrophy.[pediatricneurologybriefs.com] […] and often a deformity of the auricles ("crumpled ears").[aerzteblatt.de]

  • 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] These may include prominent forehead, large eyes with drooping lids, broad nasal bridge, and facial assymetries.[smartspeechtherapy.com] […] prominent forehead, arched eyebrows, large eyes, occasional ptosis (droopy lids), prominent nasal bridge with square root, thick nostrils, prominent nasal columella (between[chargesyndrome.org]

  • Baraitser-Winter Syndrome 1

    Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens dislocation AR ADAMTSL4 #225100 EHLERS-DANLOS SYNDROME Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.aao.org] Her facial anomalies included high arched eyebrows, hypertelorism, downslanted palpebral fissures, a broad nasal bridge, a broad nasal tip and columella, anteverted nostrils[ncbi.nlm.nih.gov] ) short stature during childhood (generally normal birth parameters and less evident in adulthood) chest deformities (superior pectus carinatum with inferior pectus excavatum[invitae.com]

  • Isolated Congenital Sclerocornea

    lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea[se-atlas.de] ., 1965), polydactyly, lacunae of the parietal bones, cranial dystrophies, deformities of the ear and congenital cerebellar symptoms (Goldstein & Cogan, 1962).[documents.tips] The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly[mendelian.co]

  • Dubowitz Syndrome

    lentis Infantile spasms broad thumbs Tardive dyskinesia Microphthalmia associated with colobomatous cyst Mucopolysaccharidosis type IVA Epidermolysis bullosa Medium-chain[checkrare.com] nasal bridge, dysplastic auricles, and retrognathia, is presented.[ncbi.nlm.nih.gov] These deformities may include a deformed or absent ear, missing eye or malformations of the jaw, lip, nose and soft palate.[bertsbigadventure.org]

  • BOD Syndrome

    lentis Blepharospasm Blethen Wenick Hawkins syndrome Blomstrand syndrome Blood Coagulation Disorders, Inherited Blood platelet disorders Blood vessel disorder Bloom syndrome[bioreference.net] bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose[rarediseases.info.nih.gov] Substance CAS Registry & name Categories Source Powell Chandra Saal syndrome 0 *Abnormalities, Multiple *Heart Defects, Congenital *Pterygium *Limb Deformities, Congenital[reference.md]

  • Pallister W 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] nasal bridge.[ucsdguardian.org] Genet. 146A: 3198-3201 Powell Chandra Saal syndrome 0 *Abnormalities, Multiple *Heart Defects, Congenital *Pterygium *Limb Deformities, Congenital Ear/abnormalities Radius[reference.md]

  • 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] Images of patient 1 with Axenfeld-Rieger syndrome. ( A ) Facial photograph showing maxillary hypoplasia, thin upper lip, and broad nasal bridge. ( B ) Left eye with corectopia[iovs.arvojournals.org] 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]

  • Saethre-Chotzen Syndrome

    A point of difference from Marfan syndrome is that ectopia lentis does not occur. Skeletal manifestations include bowed long bones, metaphy- Fig. 1.12.[rrnursingschool.biz] Abnormally shaped head, eyes that are widely spaced, droopy eyelids, a broad nasal bridge, unusually shaped ears, poor facial asymmetry are all common characteristics of Saethre-Chotzen[grinerplasticsurgery.com] Skeletal deformities may require CT and MRI scans as well as x-rays. Cardiac assessment, including echocardiography, for congenital heart disease.[natureblind.blogspot.com]

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