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147 Possible Causes for Congenital Ear Deformity, Ectopia Lentis, Poor Feeding

  • 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] Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research.[ncbi.nlm.nih.gov] These feeding behaviors are an important addition to the knowledge of the highly prevalent feeding difficulties in this genetic disorder.[ncbi.nlm.nih.gov]

  • Smith-Magenis Syndrome

    Ocular findings in our patient include: myopia, iris nodules, loose zonules, and ectopia lentis.[ncbi.nlm.nih.gov] Search for diagnosis begin intensively owing to persistence of tachypnia, mild hypotonia, feeding difficulties, sleep disturbances, and mild dysmorphic facial features.[ncbi.nlm.nih.gov] Infants usually have diminished muscle tone (hypotonia), poor reflexes (hyporeflexia), and feeding difficulties such as poor sucking ability, which can contribute to failure[rarediseases.org]

  • Dubowitz Syndrome

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

  • Stuve-Wiedemann Syndrome

    lentis and with or without secondary glaucoma, Weill-Marchesani syndrome MATN3 Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type[genda.com.ar] Short neck Chest deformity Dry skin 3 of 7 have congenital heart defects 45 Molecular study in Noonan-like syndrome Homozygosity mapping localized the gene to chromosome[slideplayer.com] […] swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Enlarged joints 0003037 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Femoral[rarediseases.info.nih.gov]

  • 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] difficulties in infancy Abnormality of the hip bone Sporadic Narrow mouth Constipation Agenesis of corpus callosum Syndactyly Heterogeneous Patent ductus arteriosus High[mendelian.co]

  • Marchesani-Weill Syndrome

    Simple dominant ectopia lentis. Pathogenic variants in FBN1 have been identified in some families. Inheritance is autosomal dominant. Ectopia lentis and pupilae.[ncbi.nlm.nih.gov] […] and often a deformity of the auricles ("crumpled ears").[aerzteblatt.de] He had feeding difficulties and impaired peripheral circulation. At operation we found a fibrotic mitral valve and subvalvular apparatus.[academic.oup.com]

  • Helsmoortel-van der Aa Syndrome

    […] developmental delay1 PEX6 5190 912 Blepharoptosis myopia ectopia lentis C1862259 ORPHA10498HP:0001263 HP:0011344 Severe global developmental delay1 PEX6 5190 44 Haim-Munk[mseqdr.org] […] with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity.[findzebra.com] lentis).[glowm.com]

  • 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] Some individuals have problems with their immune system, respiratory issues, kidney abnormalities, low calcium, feeding difficulties, hearing loss, skeletal differences, and[childrensmercy.org]

  • Syndromic Microphthalmia Type 10

    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] 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] difficulties Microcephaly Increased variability in muscle fiber diameter Frontal bossing Calf muscle hypertrophy Global developmental delay Ventriculomegaly Macrocephaly[mendelian.co]

  • Noonan 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] […] with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity.[orpha.net] difficulties in early infancy often lead to hospitalization owing to lethargy, poor feeding, vomiting, and possible sepsis or failure to thrive. 15 The cause of this poor[touchendocrinology.com]

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