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92 Possible Causes for Hyperconvex Fingernails, Overfolded Superior Helix, Pseudoepiphyses of the Metacarpals

  • Coffin-Lowry Syndrome

    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] superior helix [ Graham et al 1998 ].[ncbi.nlm.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

    Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Almost everyone with this disorder has distinctive facial features, including a broad, flat[…][ghr.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    […] of the metacarpals 0009193 Radial bowing Bowing of outer large bone of the forearm 0002986 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Short distal phalanx[rarediseases.info.nih.gov] […] nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal femoral epiphysiolysis Slipped end part of innermost thighbone 0006461 Pseudoepiphyses[rarediseases.info.nih.gov]

    Missing: Hyperconvex Fingernails 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: Overfolded Superior Helix Pseudoepiphyses of the Metacarpals
  • Hypertrichotic Osteochondrodysplasia

    […] of the metacarpals Bifid sternum Thickened calvaria Retinopathy Pachygyria Sparse scalp hair Hypopigmentation of the skin Tetralogy of Fallot Neuronal loss in central nervous[mendelian.co] fingernails Lumbar kyphosis Death in early adulthood Narrow iliac wings Abnormal mitral valve morphology Abnormal aortic valve morphology Advanced eruption of teeth Abnormal[mendelian.co] […] fontanelle Severe sensorineural hearing impairment Loss of consciousness Hypoplastic fingernail Soft skin Spinal canal stenosis Anteriorly placed anus Progressive spasticity Pseudoepiphyses[mendelian.co]

    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] 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: Overfolded Superior Helix Pseudoepiphyses of the Metacarpals
  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    […] at all metacarpals and phalanges.[ncbi.nlm.nih.gov] […] vertebral bodies with sagittal and coronal clefts, missing ossification of the pubic bones, large round "balloon-like" epiphyses of the long bones, and presence of multiple pseudoepiphyses[ncbi.nlm.nih.gov]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Cleidocranial Dysplasia

    […] the metacarpals, and dental anomalies including delayed eruption of permanent dentition and multiple supernumerary teeth.[ncbi.nlm.nih.gov] […] of metacarpal and metatarsal bones ; dysplasia of the middle phalanx of the fifth finger ; shortening of the distal phalanges; thick epiphyseal ossification centers; retarted[mirc.luriechildrens.org] Hand and wrist radiographs show pseudoepiphyses of the metacarpal and metatarsal bones resulting in characteristic lengthening of the second metacarpal.[jocr.co.in]

    Missing: Hyperconvex Fingernails 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: Overfolded Superior Helix Pseudoepiphyses of the Metacarpals
  • Patau Syndrome

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

    Missing: Overfolded Superior Helix Pseudoepiphyses of the Metacarpals