JSON

Verloove Vanhorick-Brubakk syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008991

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. [ Orphanet:3429 ]

Term info

database cross reference
  • OMIM:215850 (Orphanet:3429/e)
  • UMLS:C1859082 (Orphanet:3429/e)
  • MESH:C536541 (Orphanet:3429/e)
  • Orphanet:3429 (OMIM:215850)
  • GARD:0005482 (MONDO:equivalentTo)
  • SCTID:764697003 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

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.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1859082, http://purl.obolibrary.org/obo/Orphanet_3429, https://omim.org/entry/215850, http://identifiers.org/mesh/C536541, http://identifiers.org/snomedct/764697003

has exact synonym

cleft lip-limb and heart malformations syndrome, cleft-limb-heart malformation syndrome syndrome

has related synonym

Clh syndrome, cleft-limb-heart malformation syndrome, cleft limb heart malformation syndrome, Verloove Vanhorick Brubakk syndrome

id

MONDO:0008991

seeAlso

https://rarediseases.info.nih.gov/diseases/5482/verloove-vanhorick-brubakk-syndrome