Ho-Kaufman-McAlister syndrome is a rare congenital malformation syndrome first identified in 1975 by physicians at Washington University in St. Louis. It is marked by absent tibiae along with cleft palate, micrognathia, Wormian bones, congenital heart disease, hip dislocation, bowed leg bones, and extra toes, and its cause remains unknown.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route First Described Sources
1. Wikipedia: Ho-Kaufman-McAlister syndrome
WikipediaLead section, body-system statement
Ho-Kaufman-McAlister syndrome is a rare congenital malformation syndrome where infants are born with a cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, bowed fibulae, preaxial polydactyly of the feet, abnormal skin patterns, and most prominently, missing tibia.
Lead section, transmission-route statement
Ho-Kaufman-McAlister syndrome is a rare congenital malformation syndrome where infants are born with a cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, bowed fibulae, preaxial polydactyly of the feet, abnormal skin patterns, and most prominently, missing tibia.
Lead section, body-system statement (cardiovascular)
Ho-Kaufman-McAlister syndrome is a rare congenital malformation syndrome where infants are born with a cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, bowed fibulae, preaxial polydactyly of the feet, abnormal skin patterns, and most prominently, missing tibia.
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.
4. Ho-Kaufman-McAlister syndrome (Wikipedia)
Lead sectionQuote, Lead section
Ho-Kaufman-McAlister syndrome is a rare congenital malformation syndrome where infants are born with a cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, bowed fibulae, preaxial polydactyly of the feet, abnormal skin patterns, and most prominently, missing tibia.
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