IMAGe syndrome
ORPHA: 85173
Overview
syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has physical basis in heterozygous mutation in the CDKN1C gene
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with IMAGe syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismHypospadiasAbnormality of the genital systemHydronephrosisHypogonadismLow-set earsAdrenal hypoplasiaHypotoniaIntrauterine growth retardationFrontal bossingMicromeliaDepressed nasal bridgeMetaphyseal dysplasia
Classification & Codes
Orphanet Code
ORPHA:85173IMAGe syndrome
| Orphanet | ORPHA:85173 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO