Aase-Smith syndromes are deformities occurring in males characterised by a decreased production (hypoplasia

Hypoplasia

Hypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...

) of red blood cells leading to anemia

Anemia

Anemia is a decrease in number of red blood cells or less than the normal quantity of hemoglobin in the blood. However, it can include decreased oxygen-binding ability of each hemoglobin molecule due to deformity or lack in numerical development as in some other types of hemoglobin...

 as well as certain joint contractures. They are named after Jon Morton Aase and David Weyhe Smith.

Causes

It occurs without a known reason. However, most cases of Aase syndrome

Syndrome

In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...

 are not inheritable.

Symptoms

• Triple-jointed thumbs
• Pale skin
• Decreased skin creases at finger joints
• Deformed
  Deformity
  A deformity, dysmorphism, or dysmorphic feature is a major difference in the shape of body part or organ compared to the average shape of that part.Deformity may arise from numerous causes:*A Genetic mutation*Damage to the fetus or uterus...
  
   ears
• Narrow shoulders
• Inability to fully extend the joints from birth
• Droopy eyelids
• Cleft palate
• Absent/small knuckles

Treatment

Blood transfusions are given in the first year of life to treat anemia

Anemia

Anemia is a decrease in number of red blood cells or less than the normal quantity of hemoglobin in the blood. However, it can include decreased oxygen-binding ability of each hemoglobin molecule due to deformity or lack in numerical development as in some other types of hemoglobin...

. Prednisone

Prednisone

Prednisone is a synthetic corticosteroid drug that is particularly effective as an immunosuppressant drug. It is used to treat certain inflammatory diseases and some types of cancer, but has significant adverse effects...

 has also been used to treat anemia associated with Aase syndrome. However, it should only be used after reviewing the benefits and risks with a doctor who has experience treating anemias.

If other treatment fails, a bone marrow transplant may be necessary .

Complications

Complications related to anemia include:

• Fatigue
• Decreased oxygen
  Oxygen
  Oxygen is the element with atomic number 8 and represented by the symbol O. Its name derives from the Greek roots ὀξύς and -γενής , because at the time of naming, it was mistakenly thought that all acids required oxygen in their composition...
  
   in the blood
• Weakness
  Weakness
  Weakness is a symptom represented, medically, by a number of different conditions, including: lack of muscle strength, malaise, dizziness, or fatigue. The causes are many and can be divided into conditions that have true or perceived muscle weakness. True muscle weakness is a primary symptom of a...
  
  

Heart problems can lead to a variety of complications, depending on the specific defect

Congenital disorder

A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...

.

Severe cases of Aase syndrome have been associated with stillbirth

Stillbirth

A stillbirth occurs when a fetus has died in the uterus. The Australian definition specifies that fetal death is termed a stillbirth after 20 weeks gestation or the fetus weighs more than . Once the fetus has died the mother still has contractions and remains undelivered. The term is often used in...

.