Ask the Expert

Get answers to your shoulder and elbow questions.

Note: This is for informational purposes only. Doctors cannot provide a diagnosis or individual treatment advice via e-mail. Please consult your physician about your specific health care concerns.

Please install flash player to see this video.

Hospital Virtual Tour

Aase syndrome - Symptom

Alternative Names

Aase-Smith syndrome

Symptoms:

Absent or small knuckles
Cleft palate
Decreased skin creases at finger joints
Deformed ears
Delayed closure of fontanelles (soft spots)
Droopy eye lids
Inability to fully extend the joints from birth (contracture deformity)
Mildly slowed growth
Narrow shoulders
Pale skin
Triple-jointed thumbs

Signs and tests:

Tests that may be done include:

Reviewed last on: 7/2/2007
Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

Home > Medical Reference > Encyclopedia (English)