Jequier Kozlowski skeletal dysplasia
Overview
A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies.
Symptoms
* Advanced bone age * Low hair line at back of neck * Short nose * Round face * Short neck * Joined eyebrows * Synophris * Thick eyebrows * Ear cartilage deficiency * Liver fibrosis * Enlarged diaphysis * Some permanently flexed fingers * Restricted joint mobility * Multiple bony outgrowths * Clubfoot * Abnormal rib structure * Muscle wasting * Eyelid coloboma * Vertebral abnormalities * Increased body hair * Wide set eyes * Large fontanelle * Enlarged liver * Prominent ears * Enlarged spleen * Tongue anomaly * Gum anomaly * Mucosal anomaly
Causes
No cause for body dysmorphic disorder has been identified, although theories have been put forth. The biologic theory holds that some individuals may have a genetic predisposition to psychiatric disorders, making them more likely to develop body dysmorphic disorder. Certain stresses or life events, especially during adolescence, may precipitate the onset of the disorder. It may also be associated with an imbalance of serotonin or other brain chemicals.
Treatment
The goals of treatment for the patient include enhancement of his self-esteem, reduced preoccupation with the perceived flaw, and elimination of the harmful effects of compulsive behaviors. The patient also needs to improve functional abilities as well as express (and cope with) feelings of anxiety as they arise without resorting to excessive behaviors.