Symptoma

Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

Cataracts ataxia short stature and mental retardation

She is board certified in Neurology (1997-present) and is a member of the American Academy of Neurology, the American Neurological Association and the Movement Disorder Society. [books.google.com]

Clinical Characteristics Ocular Features: Cataracts are present in both sexes but the opacification is more extensive in males and only partial in females. [disorders.eyes.arizona.edu]

Presents with neural defects and lactic acidosis. [studystack.com]

In multicentric disease, enlarged lymph nodes are present in multiple regions of lymph nodes. [en.wikipedia.org]

  • Short Stature

    Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1. J Hum Genet. 2006;51(8):695-700. [disorders.eyes.arizona.edu]

    STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES Microdontia Hypodontia Short Stature Microphthalmia and Mental Deficiency [rgd.mcw.edu]

    PubMed is a searchable database of medical literature and lists journal articles that discuss Cataracts, ataxia, short stature, and mental retardation. Click on the link to view a sample search on this topic. [rarediseases.info.nih.gov]

    Abstract Six males in a Chinese family affected by congenital cataracts, cerebellar ataxia, short stature, and mental retardation, which were tentatively named CASM syndrome. Eight female carriers in the family had cataracts alone. [ncbi.nlm.nih.gov]

  • Gingival Overgrowth

    Overgrowth Syndrome Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature Faciocardiomelic Syndrome Fallot Complex with Severe Mental and Growth Retardation Familial Convulsive Disorder with Prenatal or Early Onset familial isolated deficiency [rgd.mcw.edu]

  • Muscle Hypotonia

    Systemic Features: Males have mild to moderate mental retardation, muscle hypotonia and weakness with postural tremor. Their standing position is broad-based and they are unable to sit or stand otherwise without some support. [disorders.eyes.arizona.edu]

    Minor diagnostic criteria include a characteristic high-pitched voice (96%), hepatomegaly (70%), muscle hypotonia (60%), and cutaneous naevi flammei (65%), lumbar lordosis, very thin ribs, and fibrous dysplasia of long bones (25%) (tibia). [sites.uclouvain.be]

    hypotonia or delayed gross motor development - easy bruising - smooth, velvety skin - molluscoid pseudotumors - most common known cause of inherited intellectual disability - 2nd most common cause of genetic intellectual disability - long face, large [quizlet.com]

    hypotonia, hepatomegaly, retinal abnormalities, constrictive pericarditis, facial anomalies, low IgG and IgM, B lymphopenia without T-cell alteration Rubinstein-Taybi Mental retardation, microcephaly, thumb and forefinger enlargement, facial dysmorphism [scielo.br]

Further efforts to define the correct place for whole exome genetic sequencing in the diagnostic workup of such patients is warranted. [frontiersin.org]

Treatment Treatment Options: Cataract surgery may be indicated in young females and may be beneficial in infant boys. [disorders.eyes.arizona.edu]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Diagnosis and Prognosis: The diagnosis can be made at birth by an ophthalmologist in males. The full syndrome requires a neurological evaluation as well. Young girls with cataracts only can be diagnosed by an ophthalmologist. [disorders.eyes.arizona.edu]

10 yr survival 95% 2nd most common Women 3 x more than men Average age: 40-60 y.o Need surgical pathology to differentiate from follicular adenoma: based on capsular invasion Metastasis: via hematogenous spread (bone, liver, lung) Prognosis good: 10 [quizlet.com]

Correctly classifying the Castleman disease subtype is important, as the three subtypes vary significantly in symptoms, clinical findings, disease mechanism, treatment approach, and prognosis. Castleman disease is named after Dr. [en.wikipedia.org]

Prognosis is poor Childhood absence 4-12 years Stare momentarily and stop Two-thirds are female. epilepsy moving, may twitch their eyelids or a hand minimally. Lasts only a few seconds and certainly not longer than 30 s. [archive.org]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Diagnosis: clinical findings, aspiration for culture Treatment: parenteral antibiotics, drainage of abcess Course: complete resolution with normal TFT's Subacute Granulomatous (de Quervain's) Not uncommon (more common in women, 5:1) Probable viral etiology [quizlet.com]

Systematic review of the etiology of bilateral sensorineural hearing loss in children. Int J Pediatr Otorhinolaryngol. 2004 Sep. 68(9):1193-8. [Medline]. Mehta D, Noon SE, Schwartz E, et al. [emedicine.medscape.com]

Nothing is known regarding the etiology or the mechanism of disease. Treatment Treatment Options: Topical, intravitreal, oral, and subtenon application of steroids apparently have no impact on the progression of the intraocular disease. [disorders.eyes.arizona.edu]

Recessive Epidemiology: Most Caucasian; 10 patients Clinical Onset age: 8 months to 7 years Extrapyramidal Dystonia Rigidity Choreoathetosis Cerebellum: Ataxia; Nystagmus Spasticity Mental development Poor speech Mental deficiency: Mild to Severe Other [neuromuscular.wustl.edu]

The epidemiology of hearing impairment in the United States: newborns, children, and adolescents. Otolaryngol Head Neck Surg. 2009 Apr. 140(4):461-72. [Medline]. Morzaria S, Westerberg BD, Kozak FK. [emedicine.medscape.com]

The most common antiphospholipid antibody of pathophysiological relevance is directed against epitopes localised to the cardiolipin 2 glycoprotein I complex. Other antibodies show specificity for prothrombin and annexin V. [jnnp.bmj.com]

The pathophysiologic mechanisms of hearing loss are unknown but Merchant et al identified separation of the basilar membrane and the basement membrane and cellular dysmorphology within the organ of corti. [17] Norrie Disease is a rare disorder caused [emedicine.medscape.com]

Glycogen storage: names of types I through VI "Viagra Pills Cause A Major Hardon": Von Gierke's Pompe's Cori's Anderson's McArdle's Her's Sickle cell disease pathophysiology SICKle cell disease is due to a Substitution of the SICKsth amino acid of the [en.wikibooks.org]

To prevent BBI among athletes, prevention of nonsport in g risky behaviors such as unsafe sex and shar in g needles and syr in ges are essential. [yumpu.com]

So preventing autoimmune disease is one very important reason why early diagnosis and treatment of gluten sensitivity is important. [celiac.com]

In addition to their refractive roles, the α-crystallins serve as molecular chaperones to prevent protein aggregation resulting from oxidative stress and thus protect the lens from cataract. [ommbid.mhmedical.com]

Prevention Material correction: Choose a comfortable harness with a large belt. The use of crash pads is essential in bouldering. Crash pads are designed to cushion falls and absorb shocks. [2014.kinescalade.com]

As a result definitive diagnosis may be prevented or seriously delayed. [frontiersin.org]