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Disease Profile
Laron syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
E34.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Growth hormone insensitivity syndrome; Pituitary dwarfism II; Growth hormone receptor deficiency;
Categories
Congenital and Genetic Diseases; Endocrine Diseases
Summary
Laron
Symptoms
Other signs and symptoms associated with the condition vary but may include:[1][2][3]
- Reduced muscle strength and endurance
Hypoglycemia in infancy- Delayed puberty
- Small genitals
- Thin, fragile hair
- Dental abnormalities
- Short limbs (arms and legs)
- Obesity
- Distinctive facial features (protruding forehead, a sunken bridge of the nose, and blue sclerae)
People affected by Laron syndrome appear to have a reduced risk of
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Aplasia/Hypoplasia involving the nose |
Decreased nasal size
Decreased size of nose
[ more ] |
0009924 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
High forehead | 0000348 | |
Hypoplastic nasal bridge |
Decreased size of nasal bridge
Small bridge of nose
Small nasal bridge
[ more ] |
0005281 |
Microdontia |
Decreased width of tooth
|
0000691 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
Truncal obesity | 0001956 | |
30%-79% of people have these symptoms | ||
Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
Short fingers or toes
|
0001156 | |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Hypoglycemia |
Low blood sugar
|
0001943 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Motor delay | 0001270 | |
Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
5%-29% of people have these symptoms | ||
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
High pitched voice | 0001620 | |
Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] |
0003124 |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] |
0000966 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal joint morphology |
Abnormal shape of joints
Abnormality of the joints
Anomaly of the joints
[ more ] |
0001367 |
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
0000007 | ||
Delayed menarche |
Delayed start of first period
|
0012569 |
Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ] |
0009826 |
Short long bone |
Long bone shortening
|
0003026 |
Small face |
Short and narrow face
Small facies
[ more ] |
0000274 |
Cause
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Mecasermin(Brand name: Increlex®) Manufactured by Tercica, Inc.
FDA-approved indication: Long-term treatment of growth failure in children with severe primary IGF-1 deficiency (Primary IGFD) or with growth hormone (GH)gene deletion who have developed neutralizingantibodies to growth hormone.
National Library of Medicine Drug Information Portal - Mecasermin rinfabate(Brand name: Iplex®) Manufactured by Insmed, Inc.
FDA-approved indication: Treatment of growth failure in children with severe primary IGF-1 deficiency (Primary IGFD) or with growth hormone (GH) genedeletion who have developed neutralizing antibodies to growth hormone
National Library of Medicine Drug Information Portal
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnosis should include severe growth hormone deficiency (GHD) and growth delay due to IGF-I resistance (see this term), as well as secondary IGF-I deficiency mostly due to nutritional problems or chronic pediatric diseases.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Little People of America, Inc.
617 Broadway #518
Sonoma, CA 95476
Toll-free: 1-888-572-2001
Telephone: +1-714-368-3689
Fax: +1-707-721-1896
E-mail: [email protected]
Website: https://www.lpaonline.org/ -
The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: [email protected]
Website: https://www.magicfoundation.org/
Organizations Providing General Support
-
Human Growth Foundation
997 Glen Cove Avenue, Suite 5
Glen Head, NY 11545
Toll-free: 1-800-451-6434
Fax: 516-671-4055
E-mail: [email protected]
Website: https://www.hgfound.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Laron syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Laron syndrome. Click on the link to view a sample search on this topic.
References
- Laron syndrome. Genetics Home Reference. April 2015; https://ghr.nlm.nih.gov/condition/laron-syndrome.
- Alan D Rogol, MD, PhD. Growth hormone insensitivity syndromes. UpToDate. August 2015; Accessed 9/29/2015.
- Laron Z. Growth hormone insensitivity (Laron syndrome). Rev Endocr Metab Disord. December 2002; 3(4):347-355.
- J. Léger. Laron syndrome. Orphanet. November 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=633. Accessed 11/2/2011.
- Laron Z. Insulin-like growth factor-I treatment of children with Laron syndrome (primary growth hormone insensitivity). Pediatr Endocrinol Rev. March 2008; 5(3):766-771.
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