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240 Possible Causes for Hyperconvex Fingernails, Mask-like Facies, Overfolded Superior Helix

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Metatarsus adductus Front half of foot turns inward 0001840 Plagiocephaly[rarediseases.info.nih.gov] 30%) HP:0006610 18 webbed neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000465 19 hyperconvex fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001812 20 mask-like[malacards.org] […] weakness Rigidity Apnea Tics Muscular dystrophy Minicore myopathy Hypertrophic cardiomyopathy Short neck Hepatomegaly Abnormality of the skeletal system Flat face Kyphosis Mask-like[mendelian.co]

    Missing: 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]

    Missing: Mask-like Facies
  • Lenz-Majewski Syndrome

    Abnormality of the ureter Sprengel anomaly Increased number of teeth Hip contracture Spinal rigidity High pitched voice Myotonia Blepharospasm Phimosis Skeletal muscle hypertrophy Mask-like[mendelian.co] fingernails 0001812 Hypogonadism Decreased activity of gonads 0000135 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Kyphosis Hunched[rarediseases.info.nih.gov] facies Overfolded helix Abnormality of the urinary system Elbow dislocation Narrow palpebral fissure Laryngomalacia Cachexia Trismus Aplasia/Hypoplasia affecting the eye[mendelian.co]

    Missing: Overfolded Superior Helix
  • Parkinson's Disease

    Facial expression is blunted, described as a "masked facies". The patient typically has difficulty with the initiation of movement.[clinicaladvisor.com] Passive extension and flexion at the elbow can feel like ratcheting, described as cog-wheel rigidity. B.[clinicaladvisor.com]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Parkinson's Disease Type 3

    Parkinson's disease type 3 (PD3) is a form of Parkinson's disease that is inherited in an autosomal dominant manner. The underlying mutation has not yet been identified, but PD3 has been related to a 2.5 Mb-locus on the short arm of chromosome 2. To date, PD3 has been diagnosed in distinct families in Europe and[…][symptoma.com]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • X-linked Parkinsonism-Spasticity Syndrome

    You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser . Format Definition A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity. Acronym XPDS[…][uniprot.org]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Diffuse Scleroderma

    Chest. 1983 Nov;84(5):546-50. Abstract The pulmonary function and chest roentgenograms were evaluated in 88 patients with the CREST syndrome variant of progressive systemic sclerosis (PSS or scleroderma). Seventy-two percent of the patients had abnormal pulmonary function. An isolated decrease in diffusing[…][ncbi.nlm.nih.gov]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Systemic Scleroderma

    Systemic Scleroderma (SSc) is an autoimmune disease that affects connective tissue, resulting in hardening skin, reduced vascular perfusion, gingival fibrosis, enlarged periodontal ligament, xerostomia, and trigeminal neuralgia. Secondary effects, including reduced oral opening and reduced manual dexterity may[…][ncbi.nlm.nih.gov]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Limited Cutaneous Systemic Scleroderma

    […] of the skin and limited range of motion Atrophy and necrotic spots Lesions on the proximal nail fold Multiple, painful ischemic digital ulcers Face Loss of expression ( mask-like[amboss.com] facies ) Shortened frenulum Microstomia accompanied with characteristic perioral wrinkles Vascular disease Raynaud's phenomenon Thromboembolism Fatigue, weakness Joint stiffness[amboss.com]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Moebius Syndrome

    A case of Möbius' syndrome is presented, with the mask-like facies and poor social relationships consistent with this diagnosis.[ncbi.nlm.nih.gov] A 4-year-old boy presented with mask-like facies noted at birth after a 34-week pregnancy.[ncbi.nlm.nih.gov] The main nerves affected are the sixth (CN VI) and the seventh (CN VII) which results in abnormal gazing and mask like facies.[eyewiki.aao.org]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix