Hypotrichosis-lymphedema-telangiectasia syndrome is a congenital syndrome marked by swelling of the limbs from lymphedema, visibly dilated small blood vessels called telangiectasias, and sparse hair growth or hair loss. Lymphedema usually develops in the lower limbs around puberty, and although hair is normal at birth it is typically lost during infancy; the telangiectasias appear more often on the palms and soles than on the scalp, legs, or genitalia, and the condition has been reported with both autosomal dominant and autosomal recessive inheritance patterns.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Sources
1. Wikipedia: Hypotrichosis-lymphedema-telangiectasia syndrome
WikipediaLead section, body-system statement
Hypotrichosis-lymphedema-telangiectasia syndrome is a congenital syndrome characterized by lymphedema (swelling of tissue due to malformation or malfunction of lymphatics), the presence of telegiectasias (small dilated vessels near the surface of the skin), and hypotrichosis or alopecia (hair loss).
Lead section, transmission-route statement
Hypotrichosis-lymphedema-telangiectasia syndrome is a congenital syndrome characterized by lymphedema (swelling of tissue due to malformation or malfunction of lymphatics), the presence of telegiectasias (small dilated vessels near the surface of the skin), and hypotrichosis or alopecia (hair loss).
View the Source 2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVIIQuote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
3. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases sectionQuote, Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
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