National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Verloove Vanhorick Brubakk syndrome


Other Names:
Cleft Limb Heart Malformation Syndrome; CLH Syndrome
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 3429

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.

Visit the Orphanet disease page for more resources.
Last updated: 11/1/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal form of the vertebral bodies 0003312
Abnormality of cardiovascular system morphology 0030680
Abnormality of femur morphology
Abnormality of the thighbone
0002823
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Abnormality of the parathyroid gland 0000828
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs
[ more ] 		0006703
Atresia of the external auditory canal
Absent ear canal
0000413
Cleft palate
Cleft roof of mouth
0000175
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Limb undergrowth
limb shortening
Short limb
Short limbs
[ more ] 		0009826
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Microtia
Small ears
Underdeveloped ears
[ more ] 		0008551
Non-midline cleft lip 0100335
Tarsal synostosis
Fused ankle bones
0008368
30%-79% of people have these symptoms
Abnormal localization of kidney
Abnormal localisation of kidneys
0100542
Finger syndactyly 0006101
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Growth abnormality
Abnormal growth
Growth issue
[ more ] 		0001507
Syndactyly
Webbed fingers or toes
0001159
Truncus arteriosus 0001660
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Verloove Vanhorick Brubakk syndrome. Click on the link to view a sample search on this topic.

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