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917 Possible Causes for Hyperconvex Fingernails, Microphthalmos, Overfolded Superior Helix

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] fingernails 0001812 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw[rarediseases.info.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]

  • Patau Syndrome

    A single transverse palmar crease, polydactyly, and hyperconvex narrow fingernails are also common.[merckmanuals.com]

    Missing: Overfolded Superior Helix
  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    0100556 Hyperconvex fingernails 0001812 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Inguinal hernia 0000023 Kyphosis Hunched back Round[rarediseases.info.nih.gov] […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[en.wikipedia.org] Microphthalmia cataract Microphthalmia diaphragmatic hernia Fallot Microphthalmia mental deficiency Microphthalmia microtia fetal akinesia Microphthalmia, Lentz type Microphthalmia Microphthalmos[thefullwiki.org]

    Missing: Overfolded Superior Helix
  • Wolf-Hirschhorn Syndrome

    RESULTS: The ocular abnormalities found included hypertelorism, strabismus, refractive errors, epicanthal folds, proptosis, downslanting palpebral fissures, microphthalmos[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Lenz-Majewski Syndrome

    fingernails 0001812 Hypogonadism Decreased activity of gonads 0000135 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Kyphosis Hunched[rarediseases.info.nih.gov] […] chorioretinopathy 1 microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 Microcephaly Cervical Spine Fusion Anomalies Microcephaly Deafness Syndrome Microcephaly Microphthalmos[rgd.mcw.edu] High, narrow palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ] 0002705 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hyperconvex[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • Hallermann-Streiff Syndrome

    The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos.[ncbi.nlm.nih.gov] All patients had a microcornea and microphthalmos. Three patients had a membranous cataract.[ncbi.nlm.nih.gov] Typical features of this syndrome include microphthalmos, proportionate dwarfism, dyscephaly with birdlike facies, dental abnormalities, and hypotrichosis.[ncbi.nlm.nih.gov]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • 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]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Branchio-Oculo-Facial Syndrome

    […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[accessanesthesiology.mhmedical.com] A young male infant was noted at birth to have bilateral cleft lip and palate, bilateral microphthalmos and ocular colobomata, and a dysplastic left kidney.[ncbi.nlm.nih.gov] Clinical Characteristics Ocular Features: Microphthalmos, or anophthalmia, and an imperforate nasolacrimal duct are the primary ocular features in this syndrome.[disorders.eyes.arizona.edu]

    Missing: Hyperconvex Fingernails
  • Fraser Syndrome

    Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior.[ncbi.nlm.nih.gov] It was revealed also high-grade microphthalmos in the left ocular globe with persistent primary vitreous and retinal detachment distal.[ijponline.biomedcentral.com] […] sternum [ more ] 0006714 Aplasia/Hypoplasia of the thumb Absent/small thumb Absent/underdeveloped thumb [ more ] 0009601 Autosomal recessive inheritance 0000007 Bilateral microphthalmos[rarediseases.info.nih.gov]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Laurence Moon Syndrome

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] […] intellectual disabilities) 759.89 Marchesani (-Weill) (brachymorphism and ectopia lentis) 759.89 Menkes' 759.89 Meyer-Schwickerath and Weyers (dysplasia oculodentodigitalis) 759.89 microphthalmos[icd9data.com]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix