Pterygium Syndrome, Multiple
National Organization for Rare Disorders, Inc.
- Escobar Syndrome
- multiple pterygium syndrome
- pterygium colli syndrome
- pterygium universale
Multiple pterygium syndrome is a very rare genetic disorder characterized by minor facial anomalies, short stature, vertebral defects, multiple joints in a fixed position (contractures) and webbing (pterygia) of the neck, inside bend of the elbows, back of the knees, armpits and fingers. Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance.
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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MUMS National Parent-to-Parent Network
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Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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Last Updated: 5/15/2008
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