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Aase Syndrome

What is Aase Syndrome ?

Aase syndrome is a rare disease usually diagnosed at birth from physical features that are characteristic of this disease. These include abnormal build-up of cerebrospinal fluid (CSF) in cavities deep within the brain (hydrocephalus) resulting in pressure on the brain, cleft palate, and severe joint contractures. These congenital abnormalities, meaning present from birth, can result in physical characteristics such as an increased head size or possibility of seizures, abnormal appearance of the mouth and upper lip, and a shortening of the muscles and joints that can result in more rigid movements. 

The name Aase syndrome is derived from its first clinical diagnosis by pediatrician Jon Morton Aase in 1969. In addition to physical abnormalities, infants and young children with Aase syndrome may develop other health complications due to this rare disease. Within the first year of life, a child with Aase syndrome may be diagnosed with hypoplastic anemia, or low red blood cell count due to a genetic abnormality that causes less red blood cell production from bone marrow. This is due to underdeveloped bone marrow with an unknown genetic cause.

 

 

Synonyms

  • Aase-Smith variant
  • Aase congenital anemia

Aase syndrome is a rare disease usually diagnosed at birth from physical features that are characteristic of this disease. These include abnormal build-up of cerebrospinal fluid (CSF) in cavities deep within the brain (hydrocephalus) resulting in pressure on the brain, cleft palate, and severe joint contractures. These congenital abnormalities, meaning present from birth, can result in physical characteristics such as an increased head size or possibility of seizures, abnormal appearance of the mouth and upper lip, and a shortening of the muscles and joints that can result in more rigid movements. 

The name Aase syndrome is derived from its first clinical diagnosis by pediatrician Jon Morton Aase in 1969. In addition to physical abnormalities, infants and young children with Aase syndrome may develop other health complications due to this rare disease. Within the first year of life, a child with Aase syndrome may be diagnosed with hypoplastic anemia, or low red blood cell count due to a genetic abnormality that causes less red blood cell production from bone marrow. This is due to underdeveloped bone marrow with an unknown genetic cause.

 

Acknowledgement of Aase Syndrome has not been added yet.

Aase syndrome is a very rare disease with an unknown genetic cause. Very few cases have been reported in medical literature. It is estimated that this rare disease affects less than one in one million people.

Name Abbreviation
Aase-Smith variant
Aase congenital anemia

Aase syndrome is a rare disease present from birth that is hypothesized to be caused by a genetic mutation. There is currently no known genes associated with Aase syndrome, yet inheritance patterns indicate that this rare disease is passed from parents to their children through autosomal dominant inheritance. However, only about 45% of reported cases have a family member with Aase syndrome, therefore most people diagnosed with Aase syndrome have a random mutation causing this rare disease. There is a possibility that multiple genetic factors may cause Aase syndrome, but more research is needed in this area.

One symptom that can develop in children with Aase syndrome is anemia, or low red blood cell count due to underdeveloped bone marrow. Researchers have identified 20 possible genes that could influence bone marrow development. These genes are involved in producing ribosomes, or proteins that are crucial to the development of other proteins. More research is needed to determine the genetic link to Aase syndrome.

 

Aase syndrome is most commonly diagnosed on the basis of characteristic physical features that are shared among children with this rare disease. These physical traits include:

  • Thin or elongated fingers

  • Lack of finger knuckles and reduced creases over finger joints

  • Inability to make a fist with the hands

  • Deformed ears

  • Drooping eyelids

  • Cleft-palate

  • Clubfoot

  • Bilateral triphalangeal thumbs - thumbs have an extra long finger-like appearance with an extra joint

  • Poor peripheral vision

  • Difficulty extending joints or rigid movement

  • Mild growth deficiency

Other areas of the body can be affected by Aase syndrome including:

  • Heart defects due to lower levels of oxygen in the blood

  • Pressure build-up and other side effects in the brain due to cerebrospinal fluid entering cavities within the brain

  • Hypoplastic anemia or low red blood cell production due to abnormal or low bone marrow

Children may experience low energy or fatigue as a result of lower red blood cell count and a lack of nutrients being delivered within their body. One of these deficiencies can be iron, and children with low iron can display symptoms such as attempting to eat iron-rich materials like clay, dirt, or starch. These behaviors should be monitored and can indicate treatments that will help individual cases.

 

Aase syndrome is commonly diagnosed by doctors examining children with physical features characteristic of the rare disease. The hands are especially important in this diagnosis, as children with abnormally long thumbs with an extra joint (bilateral triphalangeal thumbs) usually develop this feature within the first 6 months of life. It is important to diagnose this disease as early as possible in order to receive personalized treatment and care and prevent organ damage or side effects due to anemia. Physical abnormalities coupled with a diagnosis of hypoplastic anemia indicates a diagnosis of Aase syndrome.

Once a diagnosis of Aase syndrome is suspected due to physical characteristics, a number of tests can be employed to confirm a diagnosis:

  • X-ray echocardiogram - Red blood cell count compared to a healthy level indicates whether levels are lower 

  • Bone marrow biopsy - Extracting a small amount of soft tissue from inside the bone to compare its red blood cell production to healthy bone marrow

There is no cure for Aase syndrome, and thus treatment plans must be tailored to fit the needs of the individual with the rare disease. Some children may require blood transfusions and medication to treat hypoplastic anemia. Others may require mineral supplements such as iron and other vitamins. This anemia may lessen with growth as the bones develop and more marrow is available to produce more red blood cells. In extreme cases of anemia, a bone marrow transplant may be necessary.

There are surgical procedures available to treat physical abnormalities associated with Aase syndrome. Many of these procedures are optional, and may be recommended on a case-by-case basis if the feature is affecting the child’s quality of life.

 

Aase syndrome is commonly diagnosed at birth or during early childhood. Mindful monitoring of symptoms, especially anemia, and appropriate treatment can maintain a healthy lifestyle and prevent further complications. Anemia in young children can increase their risk of developing diseases such as leukemia, and their red blood cell count and bone marrow should be monitored to maintain a healthy prognosis. Additionally, precautions should be taken if a person diagnosed with Aase syndrome is to undergo a procedure requiring anesthesia. Hypoplastic anemia can lead to complications and certain considerations such as measuring red blood cell count should be taken to maintain healthy oxygen levels.

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Cords registry

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.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

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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