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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
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Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for Hanhart syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Micrognathia 90%
Narrow mouth 90%
Upper limb phocomelia 90%
Abnormality of the fingernails 50%
Brachydactyly syndrome 50%
Cleft palate 50%
Finger syndactyly 50%
Reduced number of teeth 50%
Short distal phalanx of finger 50%
Split hand 50%
Telecanthus 50%
Wide nasal bridge 50%
Abnormality of the cranial nerves 7.5%
Cognitive impairment 7.5%
Facial asymmetry 7.5%
Gastroschisis 7.5%
Neurological speech impairment 7.5%
Urogenital fistula 7.5%
Abnormality of oral frenula -
Adactyly -
Autosomal dominant inheritance -
Epicanthus -
Microglossia -
Retrognathia -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Hanhart syndrome. NORD. 2004; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Hanhart%20Syndrome. Accessed 3/22/2011.
  2. Raoul Hennekam, Judith Allanson, Ian Krantz. Gorlin's Syndromes of the Head and Neck. USA: Oxford University Press; February 5, 2010;


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.