Gourt > Health > Conditions and Diseases > Genetic Disorders > Aase Syndrome
Aase syndrome or Aase-Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed. It is named after the American paediatricians Jon Morton Aase and David Weyhe Smith.
Symptoms
- Mildly slowed growth
- Pale skin
- Delayed closure of fontanelles (soft spots)
- Narrow shoulders
- Triple jointed thumbs, absent or small knuckles, decreased skin creases at finger joints
- Inability to fully extend the joints from birth (congenital contractures)
- Cleft palate
- Deformed ears
- Droopy eye lids
Chronic Illness
Rare Disorders :: Conditions and Diseases
Aase-Smith syndrome I: A syndrome of birth defects characterized by hydrocephalus, cleft palate, and severe joint contractures #dailymedterm
storymedical (Story Medical) Thu, 24 Dec 2009 16:01:44 -0000
Aase-Smith syndrome I: A syndrome of birth defects characterized by hydrocephalus, cleft palate, and severe joint contractures #dailymedterm
Aase Syndrome - A definition with a brief discussion on causes, incidence and risk factors.
NORD: Aase Syndrome - A look at the alternate names, a general discussion and resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]
