Mask-like Facies: Causes & Reasons

Possible Causes for Mask-like Facies

Mask-like facies MedGen UID: 140860 •Concept ID: C0424448 • Finding A lack of facial expression often with staring eyes and a slightly open mouth. [ncbi.nlm.nih.gov]

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]

Other conditions to be considered ☞Juvenile Paralysis Agitans of Hunt: Autosomal dominant, this syndrome is characterized by mask-like facies, parkinsonism, tremor, bradykinesia [accesspediatrics.mhmedical.com]

Malignant Hyperthermia - Arthrogryposis - Torticollis

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]

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]

[…] 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]

Freeman-Sheldon Syndrome

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]

Farlex Partner Medical Dictionary © Farlex 2012 An autosomal dominant [MIM 193700] or less commonly, or autosomal recessive [MIM 277720] condition with atypical mask-like [medical-dictionary.thefreedictionary.com]

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]

Moebius Syndrome

A 4-year-old boy presented with mask-like facies noted at birth after a 34-week pregnancy. [ncbi.nlm.nih.gov]

A case of Möbius' syndrome is presented, with the mask-like facies and poor social relationships consistent with this diagnosis. [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]

Postencephalitic Parkinson Disease

PARKINSON’S DISEASE Parkinson’s disease is characterized by a characteristic pill rolling tremor, bradykinesia, mask-like facies with a reduced blinking frequency (hypomimia [thebigl.co]

X-Linked Parkinsonism with Spasticity

[…] extrapyramidal motor function Focal-onset seizure Cerebellar atrophy Dilated third ventricle Scissor gait Dilation of lateral ventricles Hyperactive deep tendon reflexes Ankle clonus Mask-like [mendelian.co]

facies Paroxysmal choreoathetosis Congestive heart failure Encephalopathy Restlessness Lack of insight Frontal cortical atrophy Hyperorality Dyscalculia Perseveration Inappropriate [mendelian.co]

Parkinson 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]

Kufor-Rakeb Syndrome

Symptoms List: Kufor-Rakeb Syndrome Symptoms and clinical features may include: 3 Clinical Features of Kufor-Rakeb Syndrome : Autosomal recessive inheritance Mask-like facies [familydiagnosis.com]

[…] nervous system]; Parkinsonism; Hypokinesia; Akinesia; Mask-like facies; Rigidity; Anarthria; Festinate gait; Facial-faucial-finger mini-myoclonus (FFF); Spasticity; Mild [genome.jp]

Systemic Scleroderma

[…] appearance 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]

Limited Cutaneous Systemic Scleroderma

facies) Shortened frenulum Microstomia accompanied with characteristic perioral wrinkles Vascular disease Raynaud's phenomenon Thromboembolism Fatigue, weakness Joint stiffness [amboss.com]

Parkinsonism

Signs include "mask-like" facies and "cog-wheel rigidity." See Also: Neuroleptic Induced Parkinsonism paralysis agitans Parkinson's Disease [behavenet.com]

[…] tremor; 4–6 Hz), paucity and slowness of movement (hypokinesia, bradykinesia) and generalized rigidity (cogwheel and lead-pipe rigidity), festinant gait, stooped posture, mask-like [medical-dictionary.thefreedictionary.com]

It is so named because the condition gives the affected person a fixed, mask-like expression. [verywellhealth.com]

Idiopathic Basal Ganglia Calcification

Neurological presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies [canglish1.tripod.com]

Neurologic evaluation generally discloses an extrapyramidal syndrome with variable combination of bradykinesia, rigidity, festinating gait, hypophonia, mask-like facies, diminished [canglish1.tripod.com]

Diffuse Cutaneous Systemic 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]

Secondary Myopathy

The Cervical Spine is the most comprehensive, current, and authoritative reference on the cervical spine. Prepared by internationally recognized members of The Cervical Spine Research Society Editorial Committee, the Fifth Edition presents new information, new technologies, and advances in clinical decision making. The[…] [books.google.com]

Progressive Supranuclear Palsy

LAY SUMMARY back to top Correlating Brain Changes with Disease Progression in Progressive Supranuclear Palsy Using MRI This research aims to identify structural brain changes that occur over the course of progressive supranuclear palsy (PSP) and relate explicit brain changes to the onset of specific signs and[…] [dana.org]

Dementia with Lewy Bodies

Dementia with Lewy Bodies (DLB) Dementia is a general term for a group of illnesses that affect the brain, causing memory and thinking problems. Dementia with Lewy Bodies (DLB) – also known as Lewy body disease – is a form of dementia. People with this type of dementia tend to have good days and bad days. They[…] [epda.eu.com]

Facioscapulohumeral Muscular Dystrophy

Muscle and Neuromuscular Junction Disorders p. 1916-1931 December 2016, Vol.22, No.6 doi: 10.1212/CON.0000000000000399 REVIEW ARTICLES Article Related Links Abstract Purpose of Review: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular[…] [journals.lww.com]

Parkinson Disease Type 19A

The “masked facies” of Parkinson's disease is an example of slowed nonvolitional movement. [aafp.org]

“Cogwheel rigidity” refers to increased tone that is felt by the examiner as a ratchet-like resistance during passive range of motion. [aafp.org]

Myasthenia Gravis

What is myasthenia gravis? Myasthenia gravis is a chronic autoimmune neuromuscular disease that causes weakness in the skeletal muscles, which are responsible for breathing and moving parts of the body, including the arms and legs. The name myasthenia gravis, which is Latin and Greek in origin, means "grave, or[…] [ninds.nih.gov]

Ataxia Telangiectasia

Syndrome Information Clinical Description Ataxia-Telangiectasia (A-T) is a disorder of childhood onset progressive cerebellar ataxia and occulocutaneous telangiectasias. Choreoathetosis and/or dystonia are common and potentially severe. Occulomotor apraxia may appear before occcular telangiectasias. Immunodeficiencies[…] [hopkinsmedicine.org]

Marburg Virus Disease

Marburg virus belongs to the genus Marburgvirus in the family Filoviridae and causes a severe hemorrhagic fever, known as Marburg hemorrhagic fever (MHF), in both humans and nonhuman primates. Similar to the more widely known Ebola hemorrhagic fever, MHF is characterized by systemic viral replication,[…] [ncbi.nlm.nih.gov]

Gelsemium Sempervirens Poisoning

Gelsemium is an Asian and North American genus of flowering plants belonging to family Gelsemiaceae. The genus contains three species of shrubs to straggling or twining climbers. Two species are native to North America, and one to China and Southeast Asia. [2] Carl Linnaeus first classified G. sempervirens as[…] [en.wikipedia.org]

Schwartz-Jampel Syndrome

Disease definition A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth [orpha.net]

Clinical description Presentation is typically by 1 year to 2 years of age, but may occur earlier, with myotonia, maske-like facies, short stature, non-progressive muscle [orpha.net]

Ebola Virus Disease

Ebola virus disease (EVD) or Ebola hemorrhagic fever (EHF) is a severe viral hemorrhagic disease caused by ebola viruses. After an incubation period ranging from 3 to 12 days, patients present with sudden onset of the non specific symptoms of fever, malaise, arthralgia, myalgia, and chest pain followed by[…] [symptoma.com]

Sarcotubular Myopathy

Symptoms of Sarcotubular myopathy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Mask-like facies Neck flexor weakness Weakness [familydiagnosis.com]

Idiopathic Basal Ganglia Calcification Type 1

facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Memory impairment Forgetfulness Memory loss Memory problems Poor memory [rarediseases.info.nih.gov]

[…] movements 0002075 Dystonia 0001332 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hyperreflexia Increased reflexes 0001347 Limb dysmetria 0002406 Mask-like [rarediseases.info.nih.gov]

Parkinson Disease Type 20

Presentation Citation formats Standard Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. / Quadri, Marialuisa; Fang, Mingyan; Picillo, Marina; Olgiati, Simone; Breedveld, Guido J.; Graafland, Josja; Wu, Bin; Xu, Fengping; Erro, Roberto; Amboni, Marianna; Pappata, Sabina; Quarantelli,[…] [www1.bio.ku.dk]

Infantile Dystonia - Parkinsonism

— Not enough data available about incidence and published cases. Panel Name, Specifity and genes Tested/covered Dystonia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2,[…] [mendelian.co]

Parkinson Disease Type 1

Report Enza Maria Valente 1, *, ‡, Patrick M. Abou-Sleiman 2, *, Viviana Caputo 1, 3, †, Miratul M. K. Muqit 2, 4, †, Kirsten Harvey 5, Suzana Gispert 6, Zeeshan Ali 6, Domenico Del Turco 7, Anna Rita Bentivoglio 9, Daniel G Healy 2, Alberto Albanese 10, Robert Nussbaum 11, Rafael González-Maldonado 12, Thomas Deller 7, Sergio[…] [science.sciencemag.org]

8q22.1 Microdeletion Syndrome

Case Reports. 2010 Mar-Apr;53(2):108-10. doi: 10.1016/j.ejmg.2009.12.006. Epub 2010 Jan 14. Affiliations PMID: 20074678 DOI: 10.1016/j.ejmg.2009.12.006 Case Reports A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype Shailly Jain et al. Eur J Med Genet. 2010 Mar-Apr. Abstract Nablus[…] [pubmed.ncbi.nlm.nih.gov]