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This Concept Map, created with IHMC CmapTools, has information related to: V01. Achondroplasia, FGFR3 mutation causes Gain of function, 1. ACHONDROPLASIA phenotype Normal intelligence, Midline hypoplasia with Large forehead, Very high de novo mutations means Chance of father passing gene to other gene is low, 1. ACHONDROPLASIA inheritance Autosomal Dominant, Very high de novo mutations happens with Advanced Paternal age, Autosomal Dominant with Full penetrance, Compression of foramen magnum causes All kinds of problems, Hydrocephalus due to Narrowed jugular foramina, 1. ACHONDROPLASIA phenotype Midline hypoplasia, G1138C in 1-2%, FGFR3 specifically G1138A, 1. ACHONDROPLASIA phenotype Hydrocephalus, Very high de novo mutations means 50% chance of child passing it on, Inhibition of chondocytes as a resut Coordination of growth and differientation, 1. ACHONDROPLASIA Etiology Most common cause of dwarfism, 1. ACHONDROPLASIA Etiology 1 in 15000 live births, Activates FGFR3 causes Inhibition of chondocytes, FGFR3 specifically G1138C, 1. ACHONDROPLASIA treatment options Growth hormone