MeSH Browser

MeSH Supplementary: Growth Factors, Combined Defect of
Unique ID: C565529
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C565529
Entry Term(s): Hoepffner dreyer reimers syndrome; Insulin, Insulin-Like Growth Factor I, and Epidermal Growth Factor Deficiency; Peptide growth factors deficiency; Peptidic growth factors deficiency; Werner-Like Syndrome due to Combined Growth Factor Deficiency
Registry Number: 0
Heading Mapped to: Epidermal Growth Factor / *deficiency; Insulin / *deficiency; Insulin-Like Growth Factor I / *deficiency; *Metabolism, Inborn Errors
Frequency: 2
Note: Characterized by reduced subcutaneous fat on the limbs, lipodystrophy in the face and trunk, and reduced relative body weight. Also relatively broad neurocranium and birdlike face, with a beaked nose, moderate micrognathia, and a very narrow mouth. Other signs include contractures of joints, slight pectus excavatum, flat feet, and scleroderma-like changes in the skin. OMIM: 233805
Date of Entry: 2012/11/05
Revision Date: 2017/10/19

Growth Factors, Combined Defect of MeSH Supplementary Concept Data 2024