Disease Information for Laron dwarfism/GH receptor defect

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Clinical Manifestations
Signs & Symptoms
Anorexia in Infant
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Dysmorphic appearance/face
Short stature
Short stature Child
Blue eyed patient/sign
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Decreased
Somatomedin-A (Lab)
Somatomedin-C/Insulin-like Growth Factor/IGF-1 (Lab)
Abnormal Lab Findings - Increased
Growth hormone/STH, plasma (Lab)
Diagnostic Test Results
X-RAY
Xray/Delayed bone age/slow epiphysis closures
Associated Diseases & Rule outs
Associated Disease & Complications
Dwarfism
Dwarfism, pituitary
Hip arthritis
Immunodeficiency
Laron dwarfism/receptor defect
Microcephaly/oligophrenia
Nanism/dwarfism
Disease Mechanism & Classification
Class
CLASS/Humoral Immune System Disorder (ex)
CLASS/Endocrine gland (category)
CLASS/Pituitary gland involvement/disorder (ex)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Gene locus 17q11
Pathophysiology/Gene locus 17q11.2
Pathophysiology/Gene locus Chromosome 17
Pathophysiology/Gene locus Chromosome 17q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Growth hormone receptor defect [two types]
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Multiple dysmorphic syndrome (ex)
Synonyms
Synonym
Dwarfism Laron, dwarfism Laron type, GH Resistance Primary, GROWTH HORMONE INSENSITIVITY SYNDROME, GROWTH HORMONE RECEPT DEFIC, Growth Hormone Receptor Defect, GROWTH HORMONE RECEPTOR DEFICIENCY, Growth hormone receptor disorder syndrome, Laron dwarf syndrome, Laron dwarfism, Laron Syndrome, Laron type dwarfism, LARON TYPE DWARFISM I, Laron type isolated somatotropin defect, Laron type isolated somatotropin defect (disorder), Laron type pituitary dwarfism, LTD, LTD1, PITUITARY DWARFISM II, Primary GH Resistance, Primary Growth Hormone Resistance, Severe GH Insensitivity, short stature Laron type, stature short Laron type, Syndrome Laron, Synonym/Congenital pituitary dwarfism, Synonym/Dwarfism with elevated growth hormone level, Synonym/Laron GHBP type 2, Synonym/Laron GHR type 1, Synonym/Laron syndrome, Synonym/LTD1 receptor variant, Synonym/LTD2 recptor binding protein variant, Synonym/Somatomedin deficiency, primary
Definition

under construction gene locus 17q11-2; Synonyms of Laron Syndrome; GHBP; GHR; Growth Hormone Binding Protein Deficiency or Dysfunction ; Growth Hormone Receptor Deficiency or Dysfunction; LTD1; Laron Dwarfism; Laron Type Pituitary Dwarfism I; Pituitary Dwarfism II; Laron syndrome (LTD1), a rare genetic disorder, is caused by the body"s inability to use the growth hormone (GH) that it produces; The problem lies not in the production of growth hormone but rather in a defective GH-receptor; This defect prevents the proper binding of the GH molecule leaving high levels of unbound growth hormone in the plasma; LTD1 is characterized by short stature, delayed bone age and, less frequently, blue eyes and hip degeneration as well as high levels of circulating growth hormone; A second form of the disorder known as Laron syndrome type II (LTD2) shows typical clinical features of the Laron syndrome but is due to a defect in the biochemical processing of growth hormone after the hormone has been bound on the cell surface--------------[NORD 2005]----------------------------------

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External Links Related to Laron dwarfism/GH receptor defect
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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