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

Viljoen Kallis Voges syndrome


Other Names:
Microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability; Microcephaly brachydactyly kyphoscoliosis
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 3433

Definition
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.
Last updated: 6/1/2007

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
Decreased muscle mass 0003199
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ] 		0000268
Flat occiput 0005469
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] 		0002705
Intellectual disability, profound
IQ less than 20
0002187
Kyphoscoliosis 0002751
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Macrotia
Large ears
0000400
Malar flattening
Zygomatic flattening
0000272
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Shuffling gait
Shuffled walk
0002362
30%-79% of people have these symptoms
Atlantoaxial abnormality 0003413
Broad hallux
Broad big toe
Wide big toe
[ more ] 		0010055
Broad thumb
Broad thumbs
Wide/broad thumb
[ more ] 		0011304
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Hypermobility of interphalangeal joints
Increased mobility of hinge joints
0005620
Wide nasal ridge
Increased width of nasal ridge
0012811
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Last updated: 7/1/2020

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

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.
  • 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 Viljoen Kallis Voges syndrome. Click on the link to view a sample search on this topic.

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