Gordon syndrome

Overview

Gordon Syndrome: A genetic musculoskeletal disorder characterized mainly by camptodactyly, cleft palate and club foot. The type and severity of symptoms is variable.

Alternative Names: Arthrogryposis Multiplex Congenita, Distal, Type IIA, Camptodactyly-Cleft Palate-Clubfoot, Distal Arthrogryposis, Type IIA

Symptoms

  • camptodactyly (permanent fixation of several fingers in a flexed position)
  • clubfoot (abnormal bending inward of the foot) 
  • cleft palate
  • scoliosis
  • undescended testicles in males may be preset  

Causes

* Pulmonary –Cystic fibrosis –Bronchiectasis –Empyema –Pulmonary abscess –Tuberculosis, aspergillosis –Asthma complicated by infections –Pulmonary alveolar proteinosis –Sarcoidosis –Interstitial pneumonitis (lymphoid, chronic) –Pulmonary fibrosis * Cardiovascular –Cyanotic congenital heart disease –Congestive heart failure –Myxoid tumor –Subacute bacterial endocarditis –Myxomas * Gastrointestinal –Inflammatory bowel disease –Gardner syndrome –Parasitosis –Biliary cirrhosis or biliary atresia –Chronic active hepatitis –Celiac disease o Other –Diamond syndrome (myxedema, exophthalmos, clubbing) –Thyrotoxicosis –Hypervitaminosis A –Malnutrition * Acquired, one or more digits –Aortic/subclavian aneurysm –Brachial plexus injury –Shoulder subluxation –Trauma –Maffucci syndrome –Gout –Sarcoidosis –Severe herpetic whitlow * Idiopathic * Hereditary, familial (isolated) –Pachydermoperiostosis * Pseudoclubbing (broad distal phalanges with normally shaped nails) –Apert syndrome –Pfeiffer syndrome –Rubinstein-Taybi syndrome

Treatment

* No specific treatment available * In general, elimination or improvement in the associated condition is associated with a decrease in the degree of clubbing * Reversible in cystic fibrosis patients who undergo lung transplantation –Regression noted mostly during the first 3 months post transplantation * Remission observed after sectioning the thoracic vagus nerve in patients with pulmonary malignancy (uncommon condition in the pediatric population), even without removing the tumor itself * Colchicine can be used for the associated pa

Resources

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20890-8126

Phone: 301.251.4925

800# 888.205.2311

http://rarediseases.info.nih.gov/GARD/