Disease Information for Cerebro-costo-mandibular syndrome

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Clinical Manifestations
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
CLASS/Skeletal (category)
CLASS/Systemic/no comment (category)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Anomalies/Deformities/Malformations (EX)
Definition

Costello Syndrome; FCS Syndrome; Faciocutaneoskeletal Syndrome.

Discussion: Costello syndrome is an extremely rare disorder that affects multiple organ systems of the body (multisystem disorder); Costello syndrome is characterized by growth delays after birth (postnatal) leading to short stature; excessive, redundant loose skin on the neck, palms of the hands, fingers, and soles of the feet; development of benign (non-cancerous) growths (papillomata) around the mouth (perioral) and nostrils (nares); mental retardation; and/or characteristic facial appearance; Other physical features may include the development of dry hardened skin on the palms of the hands and the soles of the feet (palmoplantar hyperkeratosis), abnormally deep creases on the palms and soles, and/or abnormally flexible joints of the fingers (hyperextensible); There is an increased incidence of congenital abnormalities of the heart and thickening of the heart muscle called a cardiomyopathy; Characteristic craniofacial features may include an abnormally large head (macrocephaly); low-set ears with large, thick lobes; unusually thick lips; and/or abnormally wide nostrils (nares); Most cases of Costello syndrome are isolated with no other affected family members (sporadic). The exact cause of Costello syndrome is unknown. .[NORD 2005]

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