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Mietens' Syndrome

Mietens Syndrome


Presentation

  • With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background.[books.google.com]
  • Abnormalities of extracellular matrix may be present. b.[entokey.com]
  • 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]
  • 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]
  • 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]
Coxa Valga
  • valga 59 32 occasional (7.5%) Occasional (29-5%) HP:0002673 13 metatarsus adductus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001840 14 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328 15 aphasia 59 32 hallmark[malacards.org]
Short Forearm
  • Skeletal Feet: pes planus valgus Neurologic Central Nervous System: mental retardation, mild, some patients (iq 70-80) Skeletal Limbs: dislocated radial head elbow flexion contractures short forearms shortened radii and ulnae absent proximal radial epiphyses[malacards.org]
Narrow Nose
  • nose 32 HP:0000460 37 dislocated radial head 32 HP:0003083 38 abnormality of the fibula 59 Occasional (29-5%) 39 elbow flexion contracture 32 HP:0002987 40 forearm undergrowth 32 HP:0009821 41 absent proximal radial epiphyses 32 HP:0005093 42 abnormality[malacards.org]
High Forehead
  • forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348 21 sclerocornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000647 22 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482 23 coxa vara 59 32 occasional (7.5%) Occasional (29-[malacards.org]
Aphasia
  • 80%) HP:0000486 12 coxa valga 59 32 occasional (7.5%) Occasional (29-5%) HP:0002673 13 metatarsus adductus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001840 14 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328 15 aphasia[malacards.org]
Dysphasia
  • Mietens-Weber Type: 59 32 (show all 42) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639 2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249 3 dysphasia[malacards.org]
Echolalia
  • 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883 27 hypoplasia of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0002984 28 avascular necrosis of the capital femoral epiphysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005743 29 echolalia[malacards.org]
Amenorrhea
  • Amenorrhea - hyperprolactinemia syndrome 閉經溢乳綜合征 Galactorrhea amenorrhea syndrome 閉經綜合征[dict.site]

Workup

Hyperprolactinemia
  • Amenorrhea - hyperprolactinemia syndrome 閉經溢乳綜合征 Galactorrhea amenorrhea syndrome 閉經綜合征[dict.site]

Treatment

  • 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]
  • Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]
  • Treatment Arthrogryposis cannot be cured. The treatment goals are ambulation and self-care. Lower limb alignment for ambulation and upper limb alignment for self-care is done.[boneandspine.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]
  • Pulmonary Arterial Hypertension (PAH): Emerging Treatment Options June 14, 2018 by Roxana Sulica, MD, Associate Professor, Department of Medicine and Director, Pulmonary Hypertension at NYU Langone in New York City discusses some of the emerging tretment[checkrare.com]

Prognosis

  • 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]

Etiology

  • 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]

Epidemiology

  • 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]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]

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