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Disease Profile
Hanhart syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Neonatal
ICD-10
Q87.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Aglossia adactylia; Hypoglossia-hypodactylia syndrome; Peromelia with micrognathia
Categories
Congenital and Genetic Diseases; Mouth Diseases; Musculoskeletal Diseases
Summary
Hanhart
Symptoms
- 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.[3]
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.
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Aplasia/Hypoplasia of the tongue | 0010295 | |
Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ] |
0010669 |
Micrognathia |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 |
Narrow mouth |
Small mouth
|
0000160 |
Upper limb phocomelia | 0009813 | |
30%-79% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Adactyly | 0009776 | |
Short fingers or toes
|
0001156 | |
Cleft roof of mouth
|
0000175 | |
Finger |
0006101 | |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] |
0001171 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
5%-29% of people have these symptoms | ||
Abnormal cranial nerve morphology | 0001291 | |
Anal atresia |
Absent anus
|
0002023 |
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Feeding difficulties in infancy | 0008872 | |
Gastroschisis | 0001543 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Jejunal atresia | 0005235 | |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Percent of people who have these symptoms is not available through HPO | ||
Aglossia |
Failure of development of tongue
|
0012730 |
0000006 | ||
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Microglossia |
Abnormally small tongue
Underdevelopment of the tongue
[ more ] |
0000171 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Sporadic |
No previous family history
|
0003745 |
Cause
- Exposure of the pregnant mother to radiation, teratogenic medications, or hypothermia
- Trauma or disrupted blood flow to the baby in the womb
- Chorionic villus sampling procedures (when performed too early in the pregnancy)
Diagnosis
Treatment
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Some of the listed symptoms may be confounded with those of Nager syndrome or acro-facial dysostosis. Both Nager syndrome and acro-facial dysostosis differ from aglossia adactylia in the kind of facial dysmorphia (in Nager syndrome the ears are malformed and malar hypoplasia is associated with downslanting palpebral fissures) and in the type of limb anomalies (preaxial defects are more common in Nager syndrome whereas transverse defects are more common in aglossia-adactyly).
Visit the Orphanet disease page for more information.
|
Organizations
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
-
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: +1-407-895-0802
E-mail: [email protected]
Website: https://www.birthdefects.org/ -
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: [email protected]
Website: https://www.faces-cranio.org/
Learn more
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.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Hanhart syndrome. Click on the link to view a sample search on this topic.
References
- 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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064859/.
- Hypoglossia-hypodactyly syndrome. Orphanet. July 2005; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=989.
- Hanhart Syndrome. NORD. February 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1022/viewAbstract.
- HYPOGLOSSIA-HYPODACTYLIA. OMIM. September 2012; https://www.omim.org/entry/103300.
- Gathwala G, Singh J, Dalal P, Garg A.. Hypoglossia-hypodactyly syndrome in a newborn. J Craniomaxillofac Surg. March 2011; 39(2):99-101. https://www.ncbi.nlm.nih.gov/pubmed/20673638.
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