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Microphthalmia-dermal aplasia-sclerocornea syndrome

Congenital Malformations and Chromosomal Abnormalities

Microphthalmia-dermal aplasia-sclerocornea syndrome, also known as MLS syndrome, is a rare X-linked dominant, male-lethal disease characterized by unilateral or bilateral microphthalmia together with linear skin defects in affected females, while affected males do not survive to birth. It can be associated with mutations in the HCCS gene.

Facts
Classification
Body System
Integumentary System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 3
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Sources
1. Wikipedia: Microphthalmia-dermal aplasia-sclerocornea syndrome
Wikipedia
  • Lead: causative agent category
    MLS is a rare X-linked dominant male-lethal disease characterized by unilateral or bilateral microphthalmia and linear skin defects in affected females, and in utero lethality for affected males.
  • Lead section, body-system statement
    Microphthalmia-dermal aplasia-sclerocornea syndrome is a condition characterized by linear skin lesions.
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2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
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3. Wikipedia: Non-communicable disease
Wikipedia
  • Lead section, transmission-route statement (inferred from disease-category)
    Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
  • Inherited/genetic diseases section
    Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
View the Source
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