Hand and foot deformity with flat facies
Overview
A rare condition characterized by a flat face and hand and foot abnormalities
Symptoms
* Unusual facial appearance * Long philtrum * Flat face * Flexion deformity of hand * Extension deformity of hand * Clawed toes * Retarded physical development * Retarded mental development * High forehead * Coarse hair * Thick hair * Low hairline at back * Arched foot * Reduced muscle tone * High arched palate * Short foot * Short toes * Depressed nose bridge * Short fingers
Causes
* Carpal tunnel syndrome –Most common cause of significant wrist discomfort and morbidity –Associated with repetitive use activities (e.g., typing) –Pain and numbness symptoms result from entrapment of the median nerve under the transverse ligament * Overuse injury * Osteoarthritis * Tenosynovitis (DeQuervain's) of the radial wrist –Results from inflammation of the tendon sheaths of the extensor pollicis brevis and abductor pollis longus o Ganglion cysts –Common growths of tendons and ligaments in the wrist area occurring on both the dorsal and ventral surface –They are compressible, round, often tender, and mobile o Trauma –The most common mechanism of injury is a fall on the outstretched hand –The most commonly fractured carpal bone is the scaphoid –Other mechanisms include direct blows, crush injuries, fall on an angulated wrist, and severe twisting motions o Fibromyalgia o Compartment syndrome o Chest or shoulder masses, resulting in compression of lymphatic or venous systems o Venous thrombosis of the subclavian or distal veins o Flaccid paralysis following a CVA o Angioedema secondary to hymenoptera sting o Rheumatologic disease o Peripheral neuropathy o Insect or animal bite/sting o Infection (e.g., staphylococcus aureus, streptococci)
Diagnosis
Rather than undertaking an extensive diagnostic workup, it is wise to refer the patient to the appropriate specialist. If there are neurologic signs, the patient should be referred to a neurologist. Otherwise, the patient should be referred to an orthopedic surgeon or podiatrist.
Treatment
* Corticosteroid injection for carpal tunnel improves symptoms in more than half of patients; surgical intervention to release the transverse ligament and decompress the nerve entrapment may be indicated * NSAIDs reduce inflammation and use of cock-up splints applied during activities and while sleeping reduces strain from repetitive use and reduces symptoms * Corticosteroid injection along tendon sheaths and wearing a thumb spica splint treat tenosynovitis * Ganglion cysts are treated by draining the thick fluid and injecting with steroid; surgical removal is occasionally necessary * Casting of suspected fractures and repeat X-ray in 7–9 days prevents complications of occult fracture * Antihistamines and steroids treat swelling from stings * Treat rheumatologic and medical causes * Biofeedback and relaxation may be beneficial in selected cases