Ho–Kaufman–Mcalister syndrome (original) (raw)
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. The etiology is unknown. Ho–Kaufman–Mcalister syndrome is named after , , and who first described the syndrome in 1975 at Washington University in St. Louis. It is considered a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
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| dbo:abstract | 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. The etiology is unknown. Ho–Kaufman–Mcalister syndrome is named after , , and who first described the syndrome in 1975 at Washington University in St. Louis. It is considered a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). (en) El síndrome de Ho Kaufman Mcalist, también conocido como síndrome de Chen-Kung Ho Kaufman Mcalister es un síndrome raro de malformación congénita en el que los bebés nacen con labio leporino, micrognatia, huesos wormianos, insuficiencia cardíaca congénita, dislocación de caderas, peroné dislocado, polidactilia preaxial de los pies, patrones dérmicos anormales y el más destacable, ausencia de tibia. La etiología es desconocida. El Síndrome de Ho Kaufman Mcalister recibe el nombre de Chen Kung Ho, R.L. Kaufman y W.H. Mcalister, que describieron por primera vez este síndrome en 1975 en la Universidad Washington en San Luis. Se considera una enfermedad rara por el departamento de enfermedades raras (ORD) del NIH. (es) |
| dbo:synonym | Chen-Kung Ho–Kaufman–Mcalister syndrome |
| dbo:wikiPageExternalLink | https://pubmed.ncbi.nlm.nih.gov/168764/ |
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| dbp:synonym | Chen-Kung Ho–Kaufman–Mcalister syndrome (en) |
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| gold:hypernym | dbr:Syndrome |
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| rdfs:comment | 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. The etiology is unknown. Ho–Kaufman–Mcalister syndrome is named after , , and who first described the syndrome in 1975 at Washington University in St. Louis. It is considered a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). (en) El síndrome de Ho Kaufman Mcalist, también conocido como síndrome de Chen-Kung Ho Kaufman Mcalister es un síndrome raro de malformación congénita en el que los bebés nacen con labio leporino, micrognatia, huesos wormianos, insuficiencia cardíaca congénita, dislocación de caderas, peroné dislocado, polidactilia preaxial de los pies, patrones dérmicos anormales y el más destacable, ausencia de tibia. La etiología es desconocida. (es) |
| rdfs:label | Síndrome de Ho Kaufman Mcalister (es) Ho–Kaufman–Mcalister syndrome (en) |
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