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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
  • Aglossia-adactylia syndrome
  • Hypoglossia-hypodactylia syndrome
  • Hypoglossia-hypodactyly syndrome
  • Jussieu syndrome
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Symptoms

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What are the signs and symptoms of Hanhart syndrome?

The signs and symptoms of Hanhart syndrome vary, but may include:[1][2][3]
  • Small mouth
  • Short, incompletely developed tongue (hypoglossia)
  • Absent, partially missing, or shortened fingers and/or toes
  • Jaw abnormalities such as micrognathia, retrognathia (receding jaw), or partially missing mandible (lower jaw)
  • High-arched, narrow, or cleft palate
  • Absent or unusually formed arms and/or legs
  • Missing teeth
  • Absence of major salivary glands

Some infants with Hanhart syndrome may be born with paralysis of certain areas of the face. If the tongue and/or mouth are affected, this can worsen feeding difficulties that are already present due to the craniofacial abnormalities listed above.[1]

The severity of the physical abnormalities associated with Hanhart syndrome varies greatly among affected people, and children with this disorder often have some, but not all, of the symptoms.
Last updated: 4/30/2015

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 -
Aglossia -
Autosomal dominant inheritance -
Epicanthus -
Microglossia -
Retrognathia -

Last updated: 6/1/2015

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. February 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1022/viewAbstract.
  2. HYPOGLOSSIA-HYPODACTYLIA. OMIM. September 2012; http://www.omim.org/entry/103300.
  3. Manisha Goyal, Ankur Singh, Pratiksha Singh, and Seema Kapoor. Hypoglossia-Hypodactyly Syndrome with Short Stature - A Case Report. J Clin Diagn Res. April 2014; 8(4):SD01–SD02.


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