Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 
Dictionary » Schwartz Jampel Aberfeld syndrome
 

Schwartz Jampel Aberfeld syndrome

Introduction: Schwartz Jampel Aberfeld syndrome

Description of Schwartz Jampel Aberfeld syndrome

Schwartz Jampel Aberfeld syndrome (medical condition): A rare genetic disorder characterized by myotonia, blepharophimosis and...more »

See also:

Schwartz-Jampel Syndrome:
  »Introduction: Schwartz-Jampel Syndrome
  »Symptoms of Schwartz-Jampel Syndrome

Schwartz Jampel Aberfeld syndrome: A syndrome of short stature; generalized myotonia with contractures of major joints, microstomia, and muscle rigidity; ocular anomalies, mainly blepharophimosis; and characteristic facies marked by pinched or frozen smile puckered lips. Some degree of mental retardation occurs in about 25% of patients. The affected children usually appear normal at birth and the symptoms become recognizable at 1 to 3 years of age. Malignant hyperthermia is a potentially lethal hazard during anesthesia.
Source: Diseases Database

Schwartz Jampel Aberfeld syndrome: Related Topics

These medical condition or symptom topics may be relevant to medical information for Schwartz Jampel Aberfeld syndrome:

Schwartz Jampel Aberfeld syndrome: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Schwartz Jampel Aberfeld syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Schwartz Jampel Aberfeld syndrome, or a subtype of Schwartz Jampel Aberfeld syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Schwartz Jampel Aberfeld syndrome as a Disease

Schwartz Jampel Aberfeld syndrome: Another name for Schwartz-Jampel Syndrome (or close medical condition association).
  »Introduction: Schwartz-Jampel Syndrome
  »Symptoms of Schwartz-Jampel Syndrome

Schwartz Jampel Aberfeld syndrome: Related Diseases

Schwartz Jampel Aberfeld syndrome: Schwartz Jampel Aberfeld syndrome is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Schwartz Jampel Aberfeld syndrome (Schwartz-Jampel Syndrome)

Some of the symptoms of Schwartz Jampel Aberfeld syndrome incude:

Schwartz Jampel Aberfeld syndrome: Related Disease Topics

These medical disease topics may be related to Schwartz Jampel Aberfeld syndrome:

Terms associated with Schwartz Jampel Aberfeld syndrome:

Terms Similar to Schwartz Jampel Aberfeld syndrome:

Source: Diseases Database

Source - NIH

External links related to: Schwartz Jampel Aberfeld syndrome

Source: Diseases Database

Interesting Medical Articles:

Medical dictionaries:

More Medical Dictionary Topics

  • Lowry Maclean syndrome
  • Lowry protein assay
  • Lowry syndrome
  • Lowry syndrome 2
  • Lowry Wood syndrome
  • Lowry yong syndrome
  • Lowry-Folin assay
  • Lowsky Zychowica syndrome
  • Lowsley
  • Lowsley tractor
  • Loxapine
  • Loxoprofen

    Find out more

    Search to find out more about Schwartz Jampel Aberfeld syndrome:

      
      
    powered by
    Google
  •  

    By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

    Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise