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66 Possible Causes for 70-80% of Cases Are De Novo and Sporadic, Hyperconvex Fingernails, 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] The fingernails may be markedly hyperconvex. Flat feet and shortening of one of the lower limbs may occur and contribute to accentuate the clumsy, waddling gait ().[jped.com.br]

  • Wolf-Hirschhorn Syndrome

    We identified antibody deficiencies in 9 of 13 infection-prone children with Wolf-Hirschhorn syndrome (4p-monosomy). Eight of the immunodeficient children were identified by a questionnaire sent to 190 families with an affected child. Two of the children had common variable immunodeficiency, one had IgA and IgG2[…][ncbi.nlm.nih.gov]

    Missing: 70-80% of Cases Are De Novo and Sporadic 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] 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: 70-80% of Cases Are De Novo and Sporadic 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] fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001812 20 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298 21 arthrogryposis multiplex congenita[malacards.org] […] dysplasia Abnormal fingernail development 0100798 Full cheeks Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ] 0000293 Hemiatrophy Asymmetric limb shortening[rarediseases.info.nih.gov]

    Missing: 70-80% of Cases Are De Novo and Sporadic Overfolded Superior Helix
  • X-linked Distal Spinal Muscular Atrophy Type 3

    fingernails[csbg.cnb.csic.es] Micropenis / small penis / agenesis - Mouth held open - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Thin / hypoplastic / hyperconvex[csbg.cnb.csic.es]

    Missing: 70-80% of Cases Are De Novo and Sporadic Overfolded Superior Helix
  • Congenital Non-Neoplastic Nevus

    fingernails Q84.6 Hyperconvex toenails Q84.6 Hypoplastic fingernails Q84.6 Hypoplastic toenails Q84.6 Thickened toenails Q84.6 Aplasia cutis (major if large) Q84.8 Top of[cdc.gov] Enlarged or hypertrophic nails Q84.5 Pachyonychia Q84.5 Congenital clubnail, koilonychia, malformation of nail, not otherwise specified Q84.6 Duplication of thumbnail Q84.6 Hyperconvex[cdc.gov]

    Missing: 70-80% of Cases Are De Novo and Sporadic Overfolded Superior Helix
  • Patau Syndrome

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

    Missing: 70-80% of Cases Are De Novo and Sporadic Overfolded Superior Helix
  • Keratitis Bullosa

    Echolalia Asthenia Oculomotor nerve palsy Hyperconvex fingernails Scarring alopecia of scalp Urethral stricture Muscle flaccidity Tachycardia Ophthalmoplegia Splenic rupture[mendelian.co] Keratitis Papule Dysphasia Aphasia Aplasia/Hypoplasia of the skin Abnormality of mitochondrial metabolism Fatigable weakness Severe postnatal growth retardation Hypoplastic fingernail[mendelian.co]

    Missing: 70-80% of Cases Are De Novo and Sporadic Overfolded Superior Helix
  • Adactyly of Foot

    Thin, hypoplastic hyperconvex fingernails.[medigoo.com]

    Missing: 70-80% of Cases Are De Novo and Sporadic Overfolded Superior Helix
  • Bonnemann-Meinecke-Reich Syndrome

    fingernails Delayed eruption of permanent teeth Sclerosis of skull base Abnormal nasolacrimal system morphology Chordee Prominent superficial veins Lacrimal duct stenosis[mendelian.co] Prematurely aged appearance Pneumonia Aplastic clavicle Diaphyseal thickening Epispadias Elbow ankylosis Aplasia/Hypoplasia of the middle phalanges of the hand Hyperconvex[mendelian.co] Delayed cranial suture closure Generalized osteosclerosis Humeroradial synostosis Hyperconvex nail Hyperextensibility of the finger joints Limited elbow extension Increased[mendelian.co]

    Missing: 70-80% of Cases Are De Novo and Sporadic Overfolded Superior Helix