Mask-like Facies: Causes & Reasons

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Possible Causes for Mask-like Facies

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]

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]

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]

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]

She has dysmorphic mask like facies which has whistling appearance and other features include deep set eyes, broad nasal bridge, short neck, hypoplasia of the ala nasai, long [elynsgroup.com]

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]

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]

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]

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]

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]

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]

Parkinson Disease

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]

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]

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]

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]

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

To view the fulltext, please log in To view the pdf, please log in Buy FullText & PDF Unlimited re-access via MyKarger Unrestricted printing, no saving restrictions for personal use read more CHF 38.00 * EUR 35.00 * USD 39.00 * Select KAB Buy a Karger Article Bundle (KAB) and profit from a discount ! If you would[…] [dx.doi.org]

Dementia with Lewy Bodies

Abstract The present study concerns an autopsied case of dementia with Lewy bodies (DLB) showing advanced Lewy pathology but minimal Alzheimer pathology. The patient was a 50-year-old Japanese male without inheritance. His initial symptoms at the age of 43 suggested the diagnosis ofjuvenile idiopathic Parkinson's[…] [ncbi.nlm.nih.gov]

Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy in adults that is foremost characterized by progressive wasting of muscles in the upper body. FSHD is associated with contraction of D4Z4 macrosatellite repeats on chromosome 4q35, but this contraction is pathogenic only in[…] [ncbi.nlm.nih.gov]

Myasthenia Gravis

Myasthenia gravis Eye deviation and a drooping eyelid in a person with myasthenia gravis trying to open her eyes Specialty Neurology Symptoms Varying degrees muscle weakness, double vision, drooping eyelids, trouble talking, trouble walking[1] Usual onset Women under 40, men over 60[1] Duration Long term[1] Causes[…] [en.wikipedia.org]

Ataxia Telangiectasia

Ataxia telangiectasia (AT) is a rare neurodegenerative disorder inherited through an autosomal recessive pattern, mainly characterized by a progressive neurologic impairment together with cerebellar ataxia. The severity of AT varies between the subjects. Ataxia is undoubtedly one of the most important sings, and[…] [symptoma.com]

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]

Marburg Virus Disease

Known Cases and Outbreaks of Marburg Hemorrhagic Fever, in Chronological Order Year(s) Country Apparent or suspected origin Reported number of human cases Reported number (%) of deaths among cases Situation 1967 Germany and Yugoslavia Uganda 31 7 (23%) Simultaneous outbreaks occurred in laboratory workers[…] [cdc.gov]

Gelsemium Sempervirens Poisoning

Long out of print, this is a landmark study on narcotic and psychedelic substances by a world-renowned pharmacologist and toxicologist • The first book to bring non-judgmental scientific insights to the use of drugs around the world • Provides detailed information on all major drugs of the time, including opium,[…] [books.google.com]

Ebola Virus Disease

Ebola virus disease (EVD), also known as Ebola hemorrhagic fever (EHF) or simply Ebola, is a viral hemorrhagic fever of humans and other primates caused by ebolaviruses. Signs and symptoms typically start between two days and three weeks after contracting the virus with a fever, sore throat, muscular pain, and[…] [en.wikipedia.org]

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]

Cerebellotrigeminal Dermal Dysplasia

facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Telecanthus Corners of eye widely separated 0000506 Thin vermilion border [rarediseases.info.nih.gov]

Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Mask-like [rarediseases.info.nih.gov]

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

Duality. Earlier this week, our Luxembourg collaborators came to visit us at CHOP to discuss our current and future projects. We discussed potential overlaps between the diseases that both our groups are mainly involved in, namely Parkinson’s disease and genetic epilepsies. In fact, we had just published on one of[…] [epilepsygenetics.net]

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

Recognising the phenotype of genetic forms of Parkinson’s disease in clinical practice Posted in Clinical Review Article on 2nd Sep 2015 Introduction Parkinson’s disease (PD) is a heterogeneous, neurodegenerative disorder affecting 6.3 million people worldwide and 1.2 million in Europe. 1 The annual cost to Europe is[…] [acnr.co.uk]