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MedGen for PubMed (Select 22424951)

Items: 3

1.

Tourette Syndrome

Tourette disorder (TD) is defined by the presence for more than a year of multiple motor tics and at least one vocal tic. Tics are sudden, rapid, recurrent, nonrhythmic, stereotyped motor movements or vocalizations. Individuals with either vocal or motor tics (but not both) for more than a year are given diagnoses of chronic vocal tics (CVT) or chronic motor tics (CMT), respectively. The onset of Tourette disorder is in early childhood with symptoms typically peaking before puberty and showing marked improvement by adulthood. Tourette disorder often co-occurs with other neuropsychiatric disorders, most notably attention deficit hyperactivity disorder (ADHD) and/or obsessive-compulsive disorder (OCD), and it is often these co-occurring, or comorbid conditions that bring affected individuals to medical attention. [from GeneReviews]

MedGen UID:
21219
Concept ID:
C0040517
Disease or Syndrome; Mental or Behavioral Dysfunction
2.

Headache

MedGen UID:
472355
Concept ID:
C2096315
Finding
3.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
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