loading...| Preferred Name |
Verloove Vanhorick-Brubakk syndrome |
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| Synonyms |
cleft-limb-heart malformation syndrome syndrome cleft lip-limb and heart malformations syndrome cleft-limb-heart malformation syndrome Clh syndrome Verloove Vanhorick Brubakk syndrome cleft limb heart malformation syndrome |
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| Definitions |
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008991 |
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| has_exact_synonym |
cleft-limb-heart malformation syndrome syndrome cleft lip-limb and heart malformations syndrome |
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| has_related_synonym |
cleft-limb-heart malformation syndrome Clh syndrome Verloove Vanhorick Brubakk syndrome cleft limb heart malformation syndrome |
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| label |
Verloove Vanhorick-Brubakk syndrome |
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| prefixIRI |
MONDO:0008991 |
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| prefLabel |
Verloove Vanhorick-Brubakk syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/5482/verloove-vanhorick-brubakk-syndrome |
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| textual definition |
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. |
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| subClassOf |