Search results
Results From The WOW.Com Content Network
Proteus syndrome is a rare genetic disorder [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. [2] The clinical symptoms and radiographic findings of Proteus syndrome are highly variable, as are its orthopedic manifestations ...
In 2006, some doctors diagnosed Sellars as having Proteus syndrome, a very rare condition thought to affect only 120 people worldwide, [1] but more recent diagnoses have focused on a PIK3CA gene mutation. Some reports still describe her condition as a rare form of Proteus syndrome, [2] but Sellars herself has disputed the diagnosis. [3]
Children with some overgrowth syndromes such as Klippel–Trénaunay syndrome can be readily detectable at birth. [3] In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically between the second and third year of life. [ 2 ]
The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome, these four syndromes are referred to as PTEN Hamartoma-Tumor ...
Proteus-like syndrome (PLS) is a condition similar to Proteus syndrome, but with an uncertain cause. [1] It's characterized by skeletal and hamartous overgrowth of multiple tissues, nevi in cerebriform connective tissue, blood vessel malformations and linear epidermal nevi. [2] [3]
Proteus syndrome, a very rare congenital disorder known mostly for its most famous sufferer Joseph Merrick (the Elephant Man) Proteus-like syndrome , a condition similar to Proteus syndrome, but with an uncertain etiology
Cat eye syndrome; Caudal regression syndrome; Sotos syndrome Cerebral Gigantism; CHARGE syndrome; Chromosome 16 abnormalities; Chromosome 18 abnormalities; Chromosome 20 abnormalities; Chromosome 22 abnormalities; Cleft lip/palate; Cleidocranial dysostosis; Club foot; Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome
758.0 Down syndrome; 758.1 Patau's syndrome; 758.2 Edward's syndrome; 758.3 Autosomal deletion syndromes 758.31 Cri du chat syndrome; 758.32 Velo-cardio-facial syndrome; 758.33 Other microdeletions. Miller–Dieker syndrome; Smith–Magenis syndrome; 758.4 Balanced autosomal translocation in normal individual; 758.5 Other conditions due to ...