Among the presentation are: * 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 eyelids Complications * Complications related to anemia include weakness, fatigue, and decreased oxygenation of the blood. * Decreased white blood cells alter the body's ability to fight infection. * If a heart defect exists, it may cause multiple complications (depending on the specific defect). * Severe cases have been associated with still birth or early death.
Aase syndrome
McGillivray syndrome
Bruck syndrome
Sly syndrome
Strømme syndrome
MORM syndrome
Aagenaes syndrome
Lelis syndrome