Laron syndrome
Findings
No curated finding names Laron syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.
Definition from the Mondo Disease Ontology (MONDO:0009877), read 2026-09-29. CC BY 4.0.
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- 4 of 4 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormality of the endocrine systemHPOHP:0000818
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia involving the noseHPOHP:0009924
- Very frequent (80% to 99% of cases)
- Delayed eruption of teethHPOHP:0000684
- Very frequent (80% to 99% of cases)
Show the remaining 18
- Truncal obesityHPOHP:0001956
- Very frequent (80% to 99% of cases)
- Abnormality of the elbowHPOHP:0009811
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- HypoglycemiaHPOHP:0001943
- Frequent (30% to 79% of cases)
- Hypoplasia of penisHPOHP:0008736
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GHRHGNC:4263
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
10 names
Resolves to: Laron syndrome
- Also called
- complete growth hormone insensitivityGH receptor deficiencyGrowth Hormone InsensitivityGrowth hormone receptor deficiencyLaron-type dwarfismprimary GH insensitivityprimary GH resistanceprimary growth hormone insensitivityprimary growth hormone resistanceshort stature due to growth hormone resistance