Create issue ticket

168 Possible Causes for Microphthalmos, Winged Scapula

  • Hallermann-Streiff Syndrome

    Skeletal abnormalities have also been reported in some cases, such as widely flared shoulder blades (winged scapula), abnormal curvature of the spine (lordosis or scoliosis[rarediseases.org] The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos.[ncbi.nlm.nih.gov] plexus neuritis Brachioskeletogenital Syndrome brachydactyly-syndactyly syndrome Brachymesomelia Renal Syndrome Brachymorphism-Onychodysplasia-Dysphalangism Syndrome brachyolmia-amelogenesis[rgd.mcw.edu]

  • Congenital Muscular Dystrophy

    […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[rarediseases.org] […] detachment have been reported in a high number of patients accompanied or not by other ophthalmological alterations such as abnormal eye movements, strabismus, myopia and microphthalmos[doi.org]

  • Cross Syndrome

    Rotation or abduction – The shoulder-blade (scapula bones) is moving away from the body so when you look at it from the side, you get the ‘wing effect’ , also known as winged-scapula[inspireyouthful.com] A, Photograph of the eye in Patient 1 showing the microphthalmos and spastic ectro.pion. B, Ocular anomalies in Patient 1.[kundoc.com] […] the scapulae.[doctorschierling.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C7

    […] imperfecta type 3 Pyruvate kinase deficiency Familial thoracic aortic aneurysm and dissection Frank Ter Haar syndrome STAR syndrome Nablus mask-like facial syndrome Microcephaly microphthalmos[checkrare.com]

  • Frontometaphyseal Dysplasia

    He has prominent supraorbital ridges, height-span disproportion, dental abnormalities, thick clavicles, pectus excavatum, winged scapulae, joint contractures, and generalized[ncbi.nlm.nih.gov] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] scapulae, limited joint motion, and poorly developed musculature.[ncbi.nlm.nih.gov]

  • Oculodentodigital Dysplasia

    plexus neuritis Brachioskeletogenital Syndrome brachydactyly-syndactyly syndrome Brachymesomelia Renal Syndrome Brachymorphism-Onychodysplasia-Dysphalangism Syndrome brachyolmia-amelogenesis[rgd.mcw.edu] To the best of our knowledge, this is the first report on ODDD associated with relative anterior microphthalmos and myopia.[ncbi.nlm.nih.gov] @article{b70d58e8f1ac42ecb1556888901df492, title "Relative anterior microphthalmos in oculodentodigital dysplasia", abstract "Here, we report a patient with oculodentodigital[hungary.pure.elsevier.com]

  • Sarcotubular Myopathy

    In Patients 3 and 4,the proximal weakness was moderate (Patient 3) tosevere (Patient 4), including winged scapulae, hyper-trophied calf muscles, and a positive Gowers sign[docslide.com.br] . • Severe cases may cause retinal detachment, microphthalmos, cataracts, hyperopia, or severe myopia. 62. • Cerebral changes are always present.[slideshare.net] Although 4 reported sarco-tubular myopathy patients had winged scapulae, unlike ourpatient, none of them had predominant distal weakness orcalf atrophy.[documents.tips]

  • Melhem-Fahl Syndrome

    plexus neuritis Brachioskeletogenital Syndrome Brachydactyly, Intraventricular Septal Defect, and Deafness brachydactyly-syndactyly syndrome Brachymesomelia Renal Syndrome[rgd.mcw.edu] […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[mindmappedia.com] Microphthalmia cataract Microphthalmia diaphragmatic hernia Fallot Microphthalmia mental deficiency Microphthalmia microtia fetal akinesia Microphthalmia, Lentz type Microphthalmia Microphthalmos[bionity.com]

  • Limb-Girdle Muscular Dystrophy Type 1E

    In the more severely affected patients, distal muscle weakness occurred in the advanced stages of the disease, when also winging scapulae, scoliosis, and occasional facial[link.springer.com] […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[rarediseases.org] Winging of the scapula was present [ Table/Fig-3 ]. All deep tendon reflexes and superficial reflexes were present with plantars bilateral flexors.[jcdr.net]

  • Mononen-Karnes-Senac Syndrome

    plexus neuritis Brachioskeletogenital Syndrome Brachycephaly, Trichomegaly, and Developmental Delay Brachydactyly, Type A2, With Microcephaly brachydactyly-syndactyly syndrome[rgd.mcw.edu] […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[mindmappedia.com] Microphthalmia cataract Microphthalmia diaphragmatic hernia Fallot Microphthalmia mental deficiency Microphthalmia microtia fetal akinesia Microphthalmia with limb anomalies Microphthalmos[en.wikipedia.org]

Further symptoms