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51 Possible Causes for Congenital Ear Deformity, Ectopia Lentis, Widely Spaced Nipples

  • Goldberg-Shprintzen Syndrome

    nipples.[jmg.bmj.com] […] 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]

  • Isolated Congenital Sclerocornea

    Dysmorphic features included low-set ears, hypoplastic mandible, delicate and dry skin, narrow and arched palate, wide-spaced nipples, and hypotonia.[odlarmed.com] 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]

  • Oculo-Osteo-Cutaneous Syndrome

    JAAD 46:159, 2002 Scalp–ear–nipple syndrome – autosomal dominant; aplasia cutis congenita of the scalp, irregularly shaped pinna, hypoplastic nipple, widely spaced teeth,[yumpu.com] Lentis Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation FACES Syndrome fibrochondrogenesis Foveal Hypoplasia and Anterior Segment Dysgenesis[rgd.mcw.edu] Absence of, with Taurodontia and Sparse Hair Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities Thumb Deformity and Alopecia Trichodental[nfed.org]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    spaced nipples Pectus excavatum or pectus carinatum (up to 90% have both, usually pectus carinatum superiorly and pectus excavatum inferiorly) Scoliosis As patients age,[pedclerk.bsd.uchicago.edu] Ectopia lentis, familial Ectopia lentis, familial is caused by mutations in FBN1 that are predicted to disrupt normal disulfide bond formation and native protein structure[nature.com] While similar triad of left facial paralysis, bilateral anotia, and cardiac disease, is presented by Pearl, the congenital deformity of external ears in the present case is[indianjotol.org]

  • Microphthalmos

    spaced nipples, vulval anus, bilateral cortical thumb, retrognathia, short neck, generalized hypotonia.[ojoonline.org] […] pupillae Hypoplasia of the iris Buphthalmos Congenital glaucoma Anterior segment developmental abnormality Anterior synechiae of the anterior chamber Ectopia lentis Corneal[mendelian.co] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q11- Anophthalmos[icd10data.com]

  • Noonan Syndrome

    […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 30%-79% of people have these symptoms Abnormal bleeding Bleeding[rarediseases.info.nih.gov] (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] […] with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity.[orpha.net]

  • Acrootoocular Syndrome

    spaced teeth or oligodontia.[entokey.com] 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]

  • Partial Monosomy 18q

    Additional physical abnormalities have also been reported in association with the disorder, such as widely spaced nipples; deficiency of a particular antibody (i.e., immunoglobulin[rarediseases.org] Arachnodactyly, dissecting aortic aneurysms, ectopia lentis (subluxation of lens), mitral valve prolapse.[kumc.edu] 51 Eczema 4 Atretic/stenotic ear canals 39 Inguinal hernia 4 Congenital heart disease 36 Large protruding forehead 4 Increased whorl patterns 36 Clinodactyly 4 Dysplastic[labmed.hallym.ac.kr]

  • McPherson-Robertson-Cammarano Syndrome

    spaced nipples Hypoplasia or duplication of thumbs and great toes Talipes equinovarus Hypoplasia of pubic bones Vertebral and rib anomalies Defective calvaria ossification[primumn0nn0cere.wordpress.com] 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] Clinical: Hydrocephalus; agenesis of corpus callosum; congenital heart defects; mental retardation; low-set malformed ears; broad nasal bridge; micrognathia; short neck ;[dentisty.org]

  • Craniosytosis Mental Retardation Syndrome of Lin and Gettig

    […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Showing of 57 Last updated: 5/1/2019 If you need medical advice,[rarediseases.info.nih.gov] Importantly, they do not have ectopia lentis and typically do not have tall stature.[nature.com] […] of Sprengel (36%), omovertebral bone, ear abnormalities, hearing loss (38%), torticollis and facial asymmetry (45%), craniosynostosis, congenital limbs and fingers abnormalities[ispub.com]

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