1.

a) Name of Genetic Disorder

Proteus syndrome

b) ) Picture/Images
c) ) Reason behind the name
a rare disorder with a genetic background[1] that can cause tissue overgrowth involving all three embryonic lineages. Patients
with Proteus syndrome tend to have an increased risk of embryonic tumor development.
d) Description of the Disorder
Overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels.
e) Symptoms/Manifestation
The orthopaedic features are usually bilateral, asymmetrical, progressive and involving all four limbs and spine. Afflicted patients
usually have localized periarticular limb distortions, limb length discrepancy, and spine deformity. Patients with Proteus s
Syndrome can have regular bone configuration and contours despite the bone enlargement.[3] Patients can also exhibit
deformation of the skull in the form of dolichocephaly or elongated skull and facial abnormalities.
f) Possible Treatment
Monitoring for and treating vascular problems, such as blood clot (thrombus) that forms within a vein and blockage of an artery
in the lungs by a blood clot (pulmonary embolism); monitoring and treating the lung disease; and routine monitoring for evidence of
tumor development with management of the skin problems, especially for the lesions known as cerebriform connective tissue nevi.
g) Mortality rate: not stated