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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hanhart syndrome


Other Names for this Disease

  • Aglossia adactylia
  • Hypoglossia-hypodactylia syndrome
  • Peromelia with micrognathia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My husband and I are adopting a 7 year old boy who has been diagnosed with Hanhart syndrome. We need help. Is there anybody who could give us information and guidance about this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Hanhart syndrome?

Hanhart syndrome is a rare birth defect in which the main signs are a short, incompletely developed tongue (hypoglossia); absent or partially missing fingers and/or toes (hypodactylia); malformed arms and/or legs (peromelia); and an extremely small jaw (micrognathia).The severity of these physical abnormalities varies greatly among individuals, and children with this disorder often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood.[1] It appears to occur sporadically,[2] being unlikely to recur in a family. Treatment may involve orthopedic and/or plastic surgery for limb abnormalities.[3]
Last updated: 3/23/2011

What are the signs and symptoms of Hanhart syndrome?

The main features of Hanhart syndrome include a short, incompletely developed tongue (hypoglossia); absent or partially missing fingers and/or toes (hypodactylia); malformed arms and/or legs (peromelia); and an extremely small jaw (micrognathia).[1] Retrognathia (receding jaw) is also a common feature of Hanhart syndrome. Other features that have been reported include hypodontia (missing teeth) and the absence of major salivary glands.[2] The limb abnormalities in individuals with Hanhart syndrome have ranged from shortened fingers or toes and oligodactyly (missing fingers or toes) to more severe abnormalities such as absent or malformed limbs. In an affected individual, any limb may be affected.[2] The severity of the physical abnormalities associated with Hanhart syndrome varies greatly among affected individuals, and children with this disorder often have some, but not all, of the symptoms.[1]
Last updated: 3/23/2011

How can I find an expert who has knowledge and experience regarding a specific condition?

Although there is no list of experts for rare diseases, a fact sheet is available on our Web site with tips for finding healthcare professionals and researchers who have experience with a particular condition. Potential resources include patient advocacy groups, researchers conducting clinical trials, and authors of articles published in medical journals. If you are unable to locate an expert using these suggestions, please let us know. Click on the following link to view the fact sheet: http://rarediseases.info.nih.gov/GARD/FindAnExpert.aspx
Last updated: 3/21/2012

References
Other Names for this Disease
  • Aglossia adactylia
  • Hypoglossia-hypodactylia syndrome
  • Peromelia with micrognathia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.