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188 Possible Causes for H- or V-Shaped Chin Dimple, Mask-like Facies

  • Freeman-Sheldon Syndrome

    […] or "V" shaped chin dimple.[symptoma.com] A six-day-old girl, born to normal non-consanguineous parents presented with mask like facies with a small mouth giving a 'whistling' appearance.[ncbi.nlm.nih.gov] 1975; Joseph Harold Sheldon, British physician, 1920-1964 An autosomal dominant [MIM 193700] or less commonly, or autosomal recessive [MIM 277720] condition with atypical mask-like[medical-dictionary.thefreedictionary.com]

  • Parkinson's Disease

    facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Paraparesis Partial paralysis of legs 0002385 Parkinsonism with favorable[rarediseases.info.nih.gov] Increased reflexes 0001347 Hypokinesia Decreased muscle movement Decreased spontaneous movement Decreased spontaneous movements [ more ] 0002375 Hyposmia Loss of smell 0004409 Mask-like[rarediseases.info.nih.gov]

    Missing: H- or V-Shaped Chin Dimple
  • 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: H- or V-Shaped Chin Dimple
  • X-linked Parkinsonism-Spasticity Syndrome

    UniProtKB/Swiss-Prot : 75 Parkinsonism with spasticity, X-linked: A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity. MalaCards based summary : Parkinsonism with Spasticity, X-Linked, also known as xpds, is related to[…][malacards.org]

    Missing: H- or V-Shaped Chin Dimple
  • Juvenile Paralysis Agitans of Hunt

    Accession 1 dysarthria 32 HP:0001260 2 gait disturbance 32 HP:0001288 3 tremor 32 HP:0001337 4 abnormality of metabolism/homeostasis 32 HP:0001939 5 dystonia 32 HP:0001332 6 mask-like[malacards.org] facies 32 HP:0000298 7 rigidity 32 HP:0002063 8 bradykinesia 32 HP:0002067 9 parkinsonism 32 HP:0001300 Symptoms via clinical synopsis from OMIM: 57 Neuro: dysarthria gait[malacards.org]

    Missing: H- or V-Shaped Chin Dimple
  • 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: H- or V-Shaped Chin Dimple
  • 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: H- or V-Shaped Chin Dimple
  • 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: H- or V-Shaped Chin Dimple
  • 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: H- or V-Shaped Chin Dimple
  • 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: H- or V-Shaped Chin Dimple

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