growth delay due to insulin-like growth factor I resistance
Findings
No curated finding names growth delay due to insulin-like growth factor I resistance yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).
Definition from the Mondo Disease Ontology (MONDO:0010038), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
19 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.
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- 1 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
- ClinodactylyHPOHP:0030084
- Frequent (30% to 79% of cases)
Show the remaining 7
- Smooth philtrumHPOHP:0000319
- Frequent (30% to 79% of cases)
- Thin vermilion borderHPOHP:0000233
- Frequent (30% to 79% of cases)
- Wide intermamillary distanceHPOHP:0006610
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
- Severe short statureHPOHP:0003510
- 2 of 4 reported patients
- Short fingerHPOHP:0009381
- 1 of 4 reported patients
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.
- IGF1RHGNC:5465
- Definitive · G2P · Autosomal recessive · 2019
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: growth delay due to insulin-like growth factor I resistance
- Also called
- resistance to IGF-1