Conditions / Syndrome
Proteus syndrome
info · Syndrome
A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures o
A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis.
Signs and symptoms
- Cerebriform connective tissue nevus
- Multiple lipomas
- Moderate intellectual disability
- Venous malformation
- Lymphangioma
- Depigmentation/hyperpigmentation of skin
- Lipoma
- Hemihypertrophy
- Hypertrophy of skin of soles
- Macrocephaly