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Verloove Vanhorick-Brubakk syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Cleft Limb Heart Malformation Syndrome; CLH Syndrome
SNOMED CT: Verloove Vanhorick Brubakk syndrome (764697003); Cleft lip, limb and heart malformation syndrome (764697003)
Monarch Initiative: MONDO:0008991
OMIM®: 215850
Orphanet: ORPHA3429


A multiple congenital anomalies/dysmorphic syndrome with characteristics of 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 oligo/polysyndactyly, 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. [from SNOMEDCT_US]

Clinical features

From HPO
MedGen UID:
Concept ID:
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Truncus arteriosus
MedGen UID:
Concept ID:
Embryonic Structure
A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
Growth abnormality
MedGen UID:
Concept ID:

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVerloove Vanhorick-Brubakk syndrome
Follow this link to review classifications for Verloove Vanhorick-Brubakk syndrome in Orphanet.

Supplemental Content

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