Ackerman Syndrome
What is Ackerman Syndrome ?
Ackerman syndrome, or Ackerman fused molar roots syndrome, is a rare disease that causes fused molar roots to develop along with other teeth and mouth abnormalities. This is a congenital disorder, meaning that it occurs at birth due to a genetic mutation that an individual is born with, whether passed from a parent or occurring spontaneously. During early childhood, this genetic disorder is first apparent with abnormal development in dental, cutaneous, ocular, and other bone areas of the face.
A fused molar root is the abnormal development of two or more roots of the teeth joining together due to deposit formation or abnormal development of the Hertwig epithelial root sheath. If left untreated, the fused molar may be tolerable but may also cause pain, swelling, or general discomfort depending on the individual case.
Synonyms
- Pyramidal Molar-Abnormal Upper Lip Syndrome
Ackerman syndrome, or Ackerman fused molar roots syndrome, is a rare disease that causes fused molar roots to develop along with other teeth and mouth abnormalities. This is a congenital disorder, meaning that it occurs at birth due to a genetic mutation that an individual is born with, whether passed from a parent or occurring spontaneously. During early childhood, this genetic disorder is first apparent with abnormal development in dental, cutaneous, ocular, and other bone areas of the face.
A fused molar root is the abnormal development of two or more roots of the teeth joining together due to deposit formation or abnormal development of the Hertwig epithelial root sheath. If left untreated, the fused molar may be tolerable but may also cause pain, swelling, or general discomfort depending on the individual case.
This is a very rare disease that has often been observed in multiple generations within the same family. There are less than 1 in 1 million individuals with Ackerman fused molar roots. This disorder is often diagnosed during childhood and is less likely to not exhibit symptoms until adulthood. Molar root fusion is more common in women (64% of cases) than men (35% of cases).
| Name | Abbreviation |
|---|---|
| Pyramidal Molar-Abnormal Upper Lip Syndrome | PMAUL |
Very little is known about the cause of Ackerman fused molar roots syndrome. It is definitely caused by a genetic mutation that can be inherited from the individual’s parents in an autosomal recessive manner. The normal genetic inheritance pattern is to receive one copy of each chromosome from each parent. If a gene is abnormally short, long, or has other mutations that change the DNA code, it will alter the structure of proteins that cells need to function properly. In autosomal recessive inherited disorders, a mutated gene must be present on both paired chromosomes in order to exhibit a trait in the offspring. This means that both parents pass on a chromosome with a mutated gene to their affected child. Some cases of Ackerman fused molar root occur as a spontaneous mutation in a person with no family history of the disorder. There is currently no known gene mutation that is associated with Ackerman fused molar root.
Children with Ackerman fused molar roots syndrome will experience dental and other facial abnormalities, including: single root canal, full upper lip, exaggerated cupid’s bow shape to the mouth, taurodontia, and thick lower lip vermilion. Other symptoms of developmental abnormalities can be present in children with Ackerman fused molar roots: juvenile glaucoma, sparse body hair, increased pigmentation of fingers, webbed appearance of fingers (syndactyly), and abnormally curved fingers (clinodactyly). Depending on the severity or impact of these symptoms, the individual may experience pain, pressure, or other discomfort in their mouth and face.
A diagnosis of Ackerman fused molar root syndrome often depends on the physical appearance of a fused root in the teeth or discomfort associated with it. The physical and developmental abnormalities associated with this rare disease are often signs of a genetic mutation which prompt a diagnosis.
Cone-beam computed tomography (CBCT) provides an in-depth scan of the area surrounding the fused molar root to obtain a diagnosis of Ackerman fused molar root syndrome. It can also be helpful in determining the precise location for a root canal if treatment is necessary.
There are currently no prevention or reversible treatments for Ackerman syndrome. This rare disease is caused by a genetic birth defect, and the symptoms that it causes can be treated using different methods according to the individual’s case. Dental procedures may be recommended for fused molar root if a root canal may improve conditions, but are often a difficult option for this symptom. There is no cure for this disease.
Depending on the severity of symptoms, the prognosis of an individual with Ackerman syndrome is a lifetime of developmental and physical abnormalities that are otherwise treatable and in many cases tolerable. Each individual case may be treated separately but symptoms may affect the individual’s quality of life.
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Ackerman JL, Ackerman AL, Ackerman A: Taurodont, pyramidal and fused molar roots associated with other anomalies in a kindred. Am J Phys Anthropol 38:681–694, 1973. [PubMed: 4349385]
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https://rarediseases.info.nih.gov/diseases/469/pyramidal-molars-abnormal-upper-lip-syndrome
https://www.scielo.br/j/bdj/a/pjshKj6ssjPJZGRPwL6h6Qx/?format=pdf&lang=en
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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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