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Craniosynostosis with anomalies of the cranial base and digits

Congenital Malformations and Chromosomal Abnormalities

Craniosynostosis with anomalies of the cranial base and digits is an extremely rare syndrome first reported in 1980 in twin boys of Mexican American and Sioux ancestry, combining premature skull suture fusion and abnormal skull base growth with missing or misplaced fingers and toes. Both original cases died within three months of birth and no chromosomal cause was found.

Facts
Classification
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1
Communicable or Non-communicable
Non-Communicable 2
Transmission Route
Non-Transmissible 2
First Described
1980 3
Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
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2. 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.
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3. Craniosynostosis with anomalies of the cranial base and digits (Wikipedia)
Lead section
Quote, Lead section
Craniosynostosis with anomalies of the cranial base and digits is a syndrome characterized by atypical development in a fetus's limbs and skull.
View the Source
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