Hanhart syndrome: Difference between revisions

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{{Nofootnotes|article|date=October 2017}}
{{Short description|A rare congenital disorder affecting limb and craniofacial development}}
{{distinguish|Richner-Hanhart syndrome}}
{{Infobox medical condition (new)
| name            = {{PAGENAME}}
| synonyms        = Hypoglossia-hypodactyly syndrome
| image          =
| image_size=250
| alt            = 
| caption        = Hanhart syndrome is inherited in an autosomal recessive manner.<ref>[https://rarediseases.org/rare-diseases/hanhart-syndrome/ rarediseases.org].</ref>
| pronounce      = 
| field          = 
| symptoms        =
| complications  =
| onset          =
| duration        =
| types          =
| causes          = Unknown<ref name=NORD2019>{{cite web |title=Hanhart Syndrome |url=https://rarediseases.org/rare-diseases/hanhart-syndrome/ |website=NORD (National Organization for Rare Disorders) |accessdate=24 August 2019}}</ref>
| risks          =
| diagnosis      =
| differential    =
| prevention      =
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}}
== '''Alternate names''' ==
Aglossia adactylia; Hypoglossia-hypodactylia syndrome; Peromelia with micrognathia


== '''Definition''' ==
'''Hanhart syndrome''' is a rare congenital disorder characterized by limb and craniofacial abnormalities. It is a type of [[oromandibular limb hypogenesis syndrome]], which involves underdevelopment of the mouth, jaw, and limbs. The condition is named after the German physician [[Egon Hanhart]], who first described it in the 1950s.
Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs).


== '''Cause''' ==
==Presentation==
The exact underlying cause of Hanhart syndrome is currently unknown.
Individuals with Hanhart syndrome typically present with a combination of [[micrognathia]] (small jaw), [[glossoptosis]] (downward displacement or retraction of the tongue), and limb defects. The limb defects can vary significantly in severity and may include [[hypoplasia]] or [[aplasia]] of the fingers, toes, hands, or feet. In some cases, individuals may have [[syndactyly]] (fusion of fingers or toes) or [[polydactyly]] (extra fingers or toes).
However, researchers suspect that there may be genetic and/or environmental factors that contribute to the development of the condition.
To date, no specific disease-causing genes have been identified.  
Possible environmental factors including:
* 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)


== '''Signs and symptoms''' ==
==Etiology==
The signs and symptoms of Hanhart syndrome vary, but may include:
The exact cause of Hanhart syndrome is not well understood. It is believed to be a genetic disorder, although the specific genetic mutations involved have not been definitively identified. Some cases have been associated with [[chromosomal abnormalities]], but these are not consistent across all individuals with the syndrome.
* 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.


For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
==Diagnosis==
80%-99% of people have these symptoms
Diagnosis of Hanhart syndrome is primarily based on clinical examination and the identification of characteristic physical features. [[Prenatal diagnosis]] may be possible through [[ultrasound]] if limb and craniofacial abnormalities are detected. Genetic testing may be used to rule out other conditions with similar presentations.
* [[Aplasia]]/[[Hypoplasia]] of the tongue
* [[Hypoplasia]] of the [[zygomatic bone]](Cheekbone underdevelopment)
* [[Micrognathia]](Little lower jaw)
* Narrow mouth(Small mouth)
* Upper limb [[phocomelia]]


30%-79% of people have these symptoms
==Management==
* Abnormal fingernail morphology(Abnormal fingernails)
Management of Hanhart syndrome is typically supportive and symptomatic. Surgical interventions may be necessary to address significant limb deformities or craniofacial abnormalities. [[Speech therapy]] and [[occupational therapy]] can be beneficial in improving functional outcomes and quality of life. Multidisciplinary care involving [[pediatricians]], [[geneticists]], [[orthopedic surgeons]], and other specialists is often required.
* [[Adactyly]]
* [[Brachydactyly]](Short fingers or toes)
* [[Cleft palate]](Cleft roof of mouth)
* Finger [[syndactyly]]
* [[Hypodontia]](Failure of development of between one and six teeth)
* Short distal phalanx of finger(Short outermost finger bone)
* Split hand(Claw hand)
* [[Telecanthus]](Corners of eye widely separated)
* Wide nasal bridge(Broad nasal bridge)


5%-29% of people have these symptoms
==Prognosis==
* Abnormal cranial nerve morphology
The prognosis for individuals with Hanhart syndrome varies depending on the severity of the abnormalities and the presence of any associated complications. Early intervention and comprehensive management can improve outcomes and help individuals achieve a better quality of life.
* Anal [[atresia]](Absent anus)
* Death in infancy(Infantile death)
* Facial asymmetry(Asymmetry of face)
* Feeding difficulties in infancy
* [[Gastroschisis]]
* High palate(Elevated palate)
* [[Intellectual disability]](Mental deficiency)
* Jejunal [[atresia]]
* Neurological speech impairment(Speech disorder)


== '''Diagnosis''' ==
==Related pages==
* A diagnosis of Hanhart syndrome is typically made based on the presence of characteristic signs and symptoms.
* [[Oromandibular limb hypogenesis syndrome]]
* In some cases, the diagnosis may be suspected before birth if concerning features are seen on [[ultrasound]].
* [[Micrognathia]]
* [[Glossoptosis]]
* [[Syndactyly]]
* [[Polydactyly]]


== '''Treatment''' ==
[[Category:Congenital disorders]]
* Because Hanhart syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals.
[[Category:Rare diseases]]
* Treatment for this condition varies because it depends on the signs and symptoms present in each person.
[[Category:Syndromes affecting the jaw]]
* For example, limb and/or craniofacial abnormalities may be treated with surgery and/or [[prostheses]].
[[Category:Syndromes with craniofacial abnormalities]]
* Affected children may also need [[speech therapy]], [[physical therapy]], and/or [[occupational therapy]].
 
== '''Prognosis''' ==
* The long-term outlook (prognosis) for people with Hanhart syndrome varies and largely depends on the signs and symptoms present in each person.
* Severe associated craniofacial abnormalities can be life-threatening and may impair breathing, eating, and/or swallowing.
* However, early diagnosis and treatment can improve survival and quality of life for affected people.
 
[[Category:Musculoskeletal disorders]]
[[Category:Congenital disorders of musculoskeletal system]]
[[Category:Rare syndromes]]
[[Category:Syndromes affecting the tongue]]
[[Category:Syndromes with dysmelia]]
{{rarediseases}}
{{stub}}
<gallery>
File:Infant with Möbius syndrome.jpg|Hanhart syndrome
File:Deux pieds 1 an.jpg|Hanhart syndrome
</gallery>

Revision as of 19:10, 22 March 2025

A rare congenital disorder affecting limb and craniofacial development


Hanhart syndrome is a rare congenital disorder characterized by limb and craniofacial abnormalities. It is a type of oromandibular limb hypogenesis syndrome, which involves underdevelopment of the mouth, jaw, and limbs. The condition is named after the German physician Egon Hanhart, who first described it in the 1950s.

Presentation

Individuals with Hanhart syndrome typically present with a combination of micrognathia (small jaw), glossoptosis (downward displacement or retraction of the tongue), and limb defects. The limb defects can vary significantly in severity and may include hypoplasia or aplasia of the fingers, toes, hands, or feet. In some cases, individuals may have syndactyly (fusion of fingers or toes) or polydactyly (extra fingers or toes).

Etiology

The exact cause of Hanhart syndrome is not well understood. It is believed to be a genetic disorder, although the specific genetic mutations involved have not been definitively identified. Some cases have been associated with chromosomal abnormalities, but these are not consistent across all individuals with the syndrome.

Diagnosis

Diagnosis of Hanhart syndrome is primarily based on clinical examination and the identification of characteristic physical features. Prenatal diagnosis may be possible through ultrasound if limb and craniofacial abnormalities are detected. Genetic testing may be used to rule out other conditions with similar presentations.

Management

Management of Hanhart syndrome is typically supportive and symptomatic. Surgical interventions may be necessary to address significant limb deformities or craniofacial abnormalities. Speech therapy and occupational therapy can be beneficial in improving functional outcomes and quality of life. Multidisciplinary care involving pediatricians, geneticists, orthopedic surgeons, and other specialists is often required.

Prognosis

The prognosis for individuals with Hanhart syndrome varies depending on the severity of the abnormalities and the presence of any associated complications. Early intervention and comprehensive management can improve outcomes and help individuals achieve a better quality of life.

Related pages

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