- Aglossia adactylia
- Hypoglossia-hypodactylia syndrome
- Peromelia with micrognathia
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- 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.
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.
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.
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.
- Hanhart Syndrome. NORD. February 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1022/viewAbstract.
- HYPOGLOSSIA-HYPODACTYLIA. OMIM. September 2012; http://www.omim.org/entry/103300.
- 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.