Abnormalities of extracellular matrix may be present. b. [entokey.com]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

It must be noted that arthrogryposis as a physical sign is present in many other conditions as well. Amyoplasia is the most common type of arthrogryposis. [boneandspine.com]

Jackson Medicine American journal of medical genetics 1992 The presentation of this syndrome includes shortness of stature of a prenatal onset; mental retardation and sluggish physical activity; initial hypertomcity; low pitched, weak, growling cry in [semanticscholar.org]

Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery [icd10data.com]

• Disability

  Intellectual disability, mild MedGen UID: 10044 •Concept ID: C0026106 • Mental or Behavioral Dysfunction Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. [ncbi.nlm.nih.gov]

  Opacity, Nystagmus, Flexion Contracture of the Elbows, Growth Failure, and Intellectual Disability 19 Intellectual Disability Syndrome, Mietens Weber Type 19 Mental Retardation Mietens Weber Type 71 Characteristics: Inheritance: Mental Retardation Syndrome [malacards.org]

  " (Technology Related Assistance for Individuals with Disabilities Act, 1988, Sta. ‏ [books.google.com]

  disability, Mietens-Weber type; Intellectual disability syndrome, Mietens Weber type; Mietens syndromeCorneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability; Intellectual disability, Mietens-Weber type [rarediseases.info.nih.gov]

  Synonyms Mietens syndrome Mental retardation syndrome, Mietens Weber type Corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation Intellectual disability, Mietens-Weber type Overview No overview is available [rarediseases.org]

• Short Stature

  short stature deafness genital Mental retardation short stature hand contractures genital anomalies Mental retardation short stature heart and skeletal anomalies Mental retardation short stature hypertelorism Mental retardation short stature microcephaly [en.wikipedia.org]

  Other features include short stature and intellectual disabilities. It is inherited as an autosomal recessive condition. [accessanesthesiology.mhmedical.com]

  stature, and intellectual disabilities) 759.89 Rud's (mental deficiency, epilepsy, and infantilism) 759.89 Russell (-Silver) (congenital hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature [icd9data.com]

• Weakness

  Jackson Medicine American journal of medical genetics 1992 The presentation of this syndrome includes shortness of stature of a prenatal onset; mental retardation and sluggish physical activity; initial hypertomcity; low pitched, weak, growling cry in [semanticscholar.org]

  Additional therapy includes physical therapy for muscle weakness, special education for children with developmental delays or intellectual disability as well as other medical, social or vocational services. [rarediseases.org]

  Abnormal mitochondria with paracrystalline inclusion in the muscle cell, heart block, limb weakness, hyperglycemic acidotic coma, death, cerebellar dysfunction. [eophtha.com]

  We report the case of a 16-year-old male patient with a myopathy with proximal muscle weakness. He started tiptoeing up, at the age of 4. [2so.shibboleth.us]

• Failure to Thrive

  The phenotype of Fxr null mice is characterized by hypercholanaemia, impaired secretion of bile acids and failure to thrive. [2so.shibboleth.us]

  E East-West Syndrome Ocular features include glare, halos, monocular diplopia, irregular pupil microphthalmos, glaucoma, cataracts.Systemic features include edwards’ syndrome Trisomy 18, 1 in 8000 live births,, failure to thrive, congenital heart disease [eophtha.com]

• Hirsutism

  Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. [2so.shibboleth.us]

• Flexion Contracture

  Summary This paper reports on Mietens' syndrome which is characterized by mental retardation, growth failure, flexion contracture of the elbows, dislocation of the radius, abnormally short ulna and radius, bilateral corneal opacity, horizontal and rotational [link.springer.com]

  Flexion contracture Contracture, Flexion contractures of joints, Joint contractures [more] A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. [rarediseases.oscar.ncsu.edu]

  Mietens syndrome Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. [pubcasefinder.dbcls.jp]

• Joint Dislocation

  […] failure and cleft lip palate Multiple congenital contractures Multiple contracture syndrome Finnish type Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia, type 2 Multiple fibrofolliculoma familial Multiple hereditary exostoses Multiple joint [en.wikipedia.org]

  Contractures, and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Mental Retardation, X-Linked + Merlob Grunebaum Reisner Syndrome MERRF Syndrome [rgd.mcw.edu]

  dislocations, unusual faces, long,cylindrical fingers, spatulate thumbs, dentalabnormalities, cardiac defects, hydrocephalus,laryngotracheomalacia, dislocation of the cervicalspine, tracheomalacias, heart disease, severerespiratory infection, clubfeet [eophtha.com]

• Hip Dislocation

  dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827 17 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209 18 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042 19 severe short stature [malacards.org]

  Hips Hip surgery should be done after foot and knee surgery. Unilateral hip dislocation requires reduction but in bilateral affliction, the reduction is not done. [boneandspine.com]

• Joint Stiffness

  stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387 9 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196 10 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252 11 strabismus 59 32 hallmark (90%) Very frequent [malacards.org]

  stiffness, high-pitched voice syndrome Skull congenital deformities Smith Fineman Myers syndrome Sonoda syndrome Speech delay Spherophakia Steinfeld syndrome Stenosis of precerebral artery Summitt syndrome TARP syndrome Temtamy syndrome Tongue absent [icdlist.com]

• Acrocephaly

  (ACS I) (Apert-Crouzon syndrome, included) (Acrocephalosyndactyly, type II, included) (ACS II, included) (Vogt cephalodactyly, included) 13 101400 Saethre-Chotzen syndrome (SCS) (Acrocephalosyndactyly, type III; ACS3) (ACS III) (Chotzen syndrome) (Acrocephaly [becomerich.lab.u-ryukyu.ac.jp]

• Corneal Opacity

  Summary This paper reports on Mietens' syndrome which is characterized by mental retardation, growth failure, flexion contracture of the elbows, dislocation of the radius, abnormally short ulna and radius, bilateral corneal opacity, horizontal and rotational [link.springer.com]

  Corneal opacity A reduction of corneal clarity. PMID (PMCID) 889539 MALE Infant Meitens' syndrome. Nagano A, Kurokawa T, Tachibana S, Tsuyama N. Arch Orthop Unfallchir. 1977;89(1):81-6. [pubcasefinder.dbcls.jp]

  Corneal opacity Reduction of corneal clarity, Corneal opacities, Corneal clouding [more] A reduction of corneal clarity. [rarediseases.oscar.ncsu.edu]

  A syndrome characterized by corneal opacity, nystagmus, flexion contracture of the elbows, growth failure and mental retardation. J Pediatr 1966; 69:624. Waring GO, Rodrigues MM. [esanatos.com]

• Strabismus

  […] reports on Mietens' syndrome which is characterized by mental retardation, growth failure, flexion contracture of the elbows, dislocation of the radius, abnormally short ulna and radius, bilateral corneal opacity, horizontal and rotational nystagmus, strabismus [link.springer.com]

  Strabismus MedGen UID: 21337 •Concept ID: C0038379 • Disease or Syndrome A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. [ncbi.nlm.nih.gov]

  Mietens syndrome Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. [pubcasefinder.dbcls.jp]

  Strabismus Squint, Heterotropia, Cross-eyed, Squint eyes [more] Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other. [rarediseases.oscar.ncsu.edu]

• Ectopia Lentis

  Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome (craniocarpotarsal dystrophy) 759.89 [icd9data.com]

  Marfan Syndrome Ocular features are ectopia lentis, retinal detachment, glaucoma, axial myopia. [eophtha.com]

• Suggestibility

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

  Martinez-Glez et al. (2006) stated that the finding of congenital nystagmus and radii dislocation in a patient with mental retardation is highly suggestive of the disorder. [findzebra.com]

  The finding of congenital nystagmus and radii dislocation in a patient with mental retardation is probably nonrandom and is highly suggestive of Mietens-Weber syndrome. [ncbi.nlm.nih.gov]

  Birth weight was unknown but hospital records at 4 months of age suggest that he was 5 kg at that time. Boy achieved all developmental milestones normally. [ispub.com]

• Psychomotor Retardation

  PSPH deficiency Psychomotor Agitation + Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism Qazi Markouizos syndrome Radio Renal Syndrome Radioulnar Synostosis Retinal Pigment Abnormalities RAHMAN SYNDROME Raine Syndrome Rajab Syndrome Rambaud [rgd.mcw.edu]

  It is characterised by its own peculiar facial phenotype, associated to growth problems, psychomotor retardation and epilepsy. [2so.shibboleth.us]

• Aggressive Behavior

  behavior syndrome X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Index to Diseases and Injuries References found for the code Q87.0 in the Index to Diseases and Injuries: - Acrocephalopolysyndactyly - Q87.0 - Acrocephalosyndactyly [icdlist.com]

• Nystagmus

  This paper reports on Mietens' syndrome which is characterized by mental retardation, growth failure, flexion contracture of the elbows, dislocation of the radius, abnormally short ulna and radius, bilateral corneal opacity, horizontal and rotational nystagmus [link.springer.com]

  Martinez-Glez et al. (2006) stated that the finding of congenital nystagmus and radii dislocation in a patient with mental retardation is highly suggestive of the disorder. [findzebra.com]

  The finding of congenital nystagmus and radii dislocation in a patient with mental retardation is probably nonrandom and is highly suggestive of Mietens-Weber syndrome. [ncbi.nlm.nih.gov]

  The finding of congenital nystagmus and radii dislocation in a patient with mental retardation is probably nonrandom and is highly suggestive of Mietens-Weber syndrome. Similar articles Meitens' syndrome. [pubmed.ncbi.nlm.nih.gov]

• Seizure

  Seizures are treated with anti-seizure (anti-convulsant) medications. The effectiveness of these medications in treating people with SWS is highly variable. [rarediseases.org]

  Neurologically, the presence of severe mental retardation and seizure activities must be noted. Most patients are affected with muscle hypotonia. Abdominal distension, megacolon, and vomiting are frequent features. [accessanesthesiology.mhmedical.com]

  Genital Hypoplasia Microcephaly Seizures Mental Retardation Heart Disorders Microcephaly Sparse Hair Mental Retardation Seizures Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia Microcephaly with Chorioretinopathy, Autosomal Dominant [rgd.mcw.edu]

  Myocarditis Myocardium disorder Myoclonic dystonia Myoclonic epilepsy Myoclonic epilepsy with ragged red fibres (MERRF syndrome) Myoclonic progressive familial epilepsy Myoclonus ataxia Myoclonus cerebellar ataxia deafness Myoclonus epilepsy partial seizure [en.wikipedia.org]

• Asthenia

  […] to existing torticollis).Systemic features include rotation of the head to one shoulder withstretching of the neck (more pronounced duringeating and reading), epigastric pain associatedwith vomiting, primarily in infancy, malnutrition,hiatal hernia, asthenia [eophtha.com]

• Tremor

  Lenoble-Aubineau Syndrome (Nystagmus-Myoclonia Syndrome) Ocular features include congenital nystagmus associated with fasciculationsof muscles spontaneously elicited bymechanical stimulation or cold.Systemic features include tremors of head and limbs, [eophtha.com]

Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 Patients. J Child Neurol. 2021 Aug 19. 8830738211022972. [QxMD MEDLINE Link]. [emedicine.medscape.com]

It is crucial for a clinically astute ophthalmologist to be aware of these syndromes to initiate necessary workup for more sinister lesions associated with certain ocular findings. [eophtha.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Treatment The treatment of SWS is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Conservative treatment is usually more successful with milder cases. Surgery: If casting or taping fails then operative treatment is the next option. [birthdefects.org]

[…] group 1 (38); treatment group 2 (35); control group (36) Mean age ± SD (years): treatment group 1 (2.9 ± 2.4); treatment group 2 (2.8 ± 2.4); control group (2.7 ± 2.5) Sex (M/F): treatment group 1 (10/9); treatment group 2 (17/18); control group (5/4 [cochranelibrary.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis Ventilator dependence in the neonatal period is associated with a poor prognosis. Prognosis also depends on natural history and the patient’s response to therapy. [boneandspine.com]

Prognosis: With adequate treatment, a positional clubfoot can be eliminated and normal functioning achieved. When the clubfoot is associated with other birth defects, the prognosis is dependent on factors related to those conditions. [birthdefects.org]

The phenotype and prognosis associated with these new genes have been scarcely described and their role in the Spanish population is unknown. [2so.shibboleth.us]

Long-term renal prognosis of diarrhea-associated hemolytic uremic syndrome: a systematic review, meta-analysis, and meta-regression. JAMA 2003;290(10):1360-70. [cochranelibrary.com]

Full title Mietens syndrome Synonyms Intellectual disability, Mietens-Weber type Name in a foreign language - Inheritance Autosomal recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods [retkebolesti.com]

Mietens Syndrome (Mietens-Weber Syndrome) General: Etiology unknown; unclassifiable familial condition. 616d39g Ocular: Bilateral corneal opacities; horizontal and rotational nystagmus; strabismus; bushy eyebrows; ptosis. [esanatos.com]

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [Medline]. Hall JG. [medscape.com]

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [QxMD MEDLINE Link]. Hall JG. [emedicine.medscape.com]

Wilms tumor (WT), the most common cancer of the kidney in infants and children, has a complex etiology that is still poorly understood. [2so.shibboleth.us]

Differential diagnosis - Diagnostic methods - Antenatal diagnosis - Epidemiology To date, only nine cases have been reported. Genetic counseling An autosomal recessive pattern of inheritance is probable. [retkebolesti.com]

Summary Epidemiology To date, only nine cases have been reported. Clinical description Ocular findings are striking. Dysmorphic features are not characteristic except for a small pinched nose and a depressed nasal root. [orpha.net]

53 Mietens Syndrome 53 59 Corneal Opacity, Nystagmus, Flexion Contracture of the Elbows, Growth Failure, and Mental Retardation 53 Mental Retardation Syndrome, Mietens Weber Type 53 Mental Retardation Mietens Weber Type 73 Characteristics: Orphanet epidemiological [malacards.org]

Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. Am J Med Genet A. 2006 Sep 1. 140A(17):1834-9. [Medline]. Lin IW, Chueh HY, Chang SD, Cheng PJ. [medscape.com]

Pathophysiology of Arthrogryposis Decreased fetal movements or fetal akinesis has been suggested to be the major contributory cause. The decrease in activity could be due to fetal abnormalities or maternal disorders like. [boneandspine.com]

It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [rarediseases.oscar.ncsu.edu]

Synsorb Pk versus placebo for secondary prevention of HUS Summary of findings 4. [cochranelibrary.com]

Preventive (prophylactic) treatment of migraines and headaches may be recommended and may include medications such as propranolol or verapamil. [rarediseases.org]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

Preventing Reoccurrence: Whether correction is done by casting or surgery, reoccurrence is possible. Children need regular follow-up for several years to monitor for reoccurrence. Isolated clubfoot may recur up to age six or seven. [birthdefects.org]