IMAGe syndrome
Findings
No curated finding names IMAGe syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.
Definition from the Mondo Disease Ontology (MONDO:0013873), 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.
- Adrenal hypoplasiaHPOHP:0000835
- 11 of 11 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- OsteopeniaHPOHP:0000938
- 3 of 3 reported patients
- Prominent foreheadHPOHP:0011220
- 11 of 11 reported patients
- Short noseHPOHP:0003196
- 11 of 11 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 10 of 11 reported patients
Show the remaining 7
- HypogonadismHPOHP:0000135
- Very frequent (80% to 99% of cases)
- HypospadiasHPOHP:0000047
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Metaphyseal dysplasiaHPOHP:0100255
- 8 of 10 reported patients
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
Genes
2 genes
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.
- CDKN1CHGNC:1786
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Moderate · Illumina · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- POLEHGNC:9177
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: IMAGe syndrome
- Also called
- intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome